Diko : en:increased urinary malic acid

en:increased urinary malic acid

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Nom

Informations lexicales

Langue:anglais

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umls:C3276835

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1000

en:plasma ammonia not elevated

•

en:thymic hormone decreased

•

en:monomeric igm

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern)

•

en:abnormal liver enzymes during illness

•

en:decreased activity of cytosolic acetoacetyl-coa thiolase (acat2, 100678)

•

en:decreased monoamine oxidase a activity

•

en:elevated gastrin concentration

•

en:increased serum creatine kinase (1 family)

•

en:increased sodium-potassium pump activity

•

en:normal erythrocyte gs activity

•

en:hypoprebetalipoproteinemia

•

en:very low igm

•

en:increased il18

•

en:ceruloplasmin decreased

•

en:lysine-ketoglutarate reductase deficiency

•

en:increased urinary cyclic amp (camp) in response to ddavp administration

•

en:mildly increased serum lactate

•

en:impaired carnitine uptake in muscle, heart, kidney, fibroblasts, and lymphocytes

•

en:hyperbilirubinemia, unconjugated, 20-30mg/dl

•

en:defect in double-stranded dna repair

•

en:decreased nasal nitric oxide

•

en:severely decreased carnitine palmitoyltransferase ii (cpt ii) activity (less than 10% of normal) in multiple tissues

•

en:abnormal serum glycoproteins

•

en:elevated plasma estrogen

•

en:elevated plasma stigmasterol

•

en:impaired platelet aggregation

•

en:increased serum gamma-ggt (231950)

•

en:normal platelet aggregation response to arachidonic acid (aa)

•

en:occasionally mild elevation of csf protein

•

en:p5c levels increased in urine

•

en:serum growth hormone increased

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:cytogenetic deletion of chromosome 19q13

•

en:normal or increased serum phosphate

•

en:excessive urinary 5-oxo-l-proline

•

en:ten percent of cases are secondary to submicroscopic deletions of 16p13.3 detectable by fish

•

en:plasma protein c deficiency

•

en:organic aciduria

•

en:urine cortisol, increased

•

en:uroporphyrinogen iii cosynthase (uro cosynthase) deficiency in blood and fibroblasts

•

en:myoglobinuria with extreme exertion

•

en:myoglobinuria, particularly after physical exertion (25% of patients)

•

en:little to absent aspartylglucosaminuria activity

•

en:fibroblasts show hypersensitivity to uv irradiation due to defect in transcription-coupled nucleotide excision repair (tc-ner)

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:direct coombs test negative

•

en:fumarase deficiency

•

en:increased lactate in spinal fluid

•

en:increased serum lactate during metabolic crisis

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:ketoses, metabolic

•

en:low plasma triglyceride level

•

en:low serum cortisol

•

en:platelet function test normal

•

en:absent igg2 subclass

•

en:abnormal bone marrow karyotype, t(8,21)

•

en:decreased serum complement factor h

•

en:decreased serum iron (in some patients)

•

en:decreased serum thiamine pyrophosphate

•

en:elevated plasma ornithine (~10-fold)

•

en:foam cells in bone marrow and renal glomeruli

•

en:igg, elevated

•

en:increased urinary excretion of 4-hydroxybutyric acid (ghb)

•

en:increased urinary o-linked sialopeptides

•

en:pms show deficient oxidation of debrisoquine

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:low-normal igm

•

en:n-acetylgalactosamine-6-sulfatase deficiency in fibroblasts and leukocytes

•

en:mononuclear cell noncaseating granulomatous inflammation on biopsy (lung, skin, lip)

•

en:median mean platelet volume (mpv) 12.5fl

•

en:systemic amyloidosis may occur

•

en:intermediate level of cellular sensitivity to uv light

•

en:increased urinary thiosulfate

•

en:impaired o-glycosylation

•

en:elevated erythrocyte sedimentation rate (mean 90mm/h)

•

en:absent platelet agglutination in presence of ristocetin

•

en:normal liver histology

•

en:elevated circulating parathyroid hormone (pth) level

•

en:calciuria

•

en:metachromasia of white blood cells and fibroblasts

•

en:proper antibody response to protein vaccinations

•

en:normal urinary pterins

•

en:normal or increased levels of serum arginine vasopressin (antidiuretic hormone, 192340)

•

en:normal calcium (female)

•

en:undetectable plasma dbh activity

•

en:intermittent ethylmalonic aciduria

•

en:increased alpha-fetoprotein (1 patient)

•

en:hypokalemia occurs during paralytic attacks

•

en:elevated serum parathyroid hormone (pth) level

•

en:increased csf interferon alpha

•

en:increased serum thyrotropin

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:normal urinary orotic acid

•

en:increased urinary l-glycerate

•

en:increased urinary free sialic acid (n-acetylneuraminic acid, 20-200x normal)

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:immotile cilia

•

en:elevated total iron-binding capacity

•

en:decreased acetyl-coa carboxylase activity

•

en:chromosomal breakage and abnormalities of the juxtacentromeric regions of chromosomes 1, 9, and 16

•

en:affected mother has normal plasma zinc levels and is not zinc-deficient

•

en:undetectable urinary hypoxanthine

•

en:shortened metaphase

•

en:agammaglobulinemia

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:increased serum lactate hydrogenase

•

en:decreased plasma hdl (<1/10 of normal levels)

•

en:pcd shows separate and rod-shaped x chromosomes without discernible centromeres

•

en:more than 50% of mitotic cells show premature chromatid separation (pcs) affecting all chromosomes

•

en:low apolipoprotein

•

en:karyomegaly may be found in other visceral organs

•

en:normal renin level

•

en:increased levels of 3-alpha-7-alpha-12-alpha-trihydroxy-5-beta-cholestanoic acid (thca) in bile, urine, and serum

•

en:increased csf, plasma, and urinary 5-hydroxytryptophan (5htp)

•

en:hepatic glycine cleavage defect

•

en:frequent inv(10)(q11.2q21) producing chimeric transforming sequence ret/ptc

•

en:echocardiogram abnormal

•

en:increased csf immunoglobulin levels

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:increased serum transaminases (in 1 of 3 patients)

•

en:increased il1b increased soluble il2r

•

en:high urinary excretion of inosine, 2'deoxyinosine, guanosine, and 2'deoxyguanosine

•

en:granular osmiophilic cytoplasmic deposits (grod) ultrastructurally in cells

•

en:decreased activity of galactocerebrosidase

•

en:decreased plasminogen antigen

•

en:decreased grhpr activity

•

en:blood glucose normal

•

en:absent enteric ganglia beginning at rectum and extending proximally by varying degrees

•

en:abnormal n-glycosylation of transferrin

•

en:low to normal tsh (values may vary depending on the measurement methods used)

•

en:increased urinary 7-biopterin (primapterin)

•

en:protein urine absent

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:increased serum ratio of corticosterone to 18-hydroxycorticosterone (18-ohb)

•

en:spongy degeneration of brain on histology

•

en:serum c-reactive protein may be increased

•

en:neutral hyperaminoaciduria

•

en:low-normal platelet count (89-290 x 10(9)/l)

•

en:loss of galactose and sialic acid from multiple branches of complex type n-glycans (in some patients)

•

en:prolonged bleeding time (10 - >30 minutes)

•

en:glycosuria

•

en:decreased testosterone level

•

en:blood pyruvic acid increased

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:serum prolactin decreased

•

en:prolonged prothrombin and partial thromboplastin times

•

en:acute hyperammonemia

•

en:cd4/cd8 ratio decreased

•

en:chondroitin 4-, 6-sulfate excretion in urine

•

en:decreased c3 activity

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:increased serum arylsulfatase a (10-20x)

•

en:increased urinary 2-oxoglutaric acid

•

en:normal plasma renin

•

en:serum cholesterol normal

•

en:elevated fibroblast free sialic acid

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:increased serum parathyroid hormone (pth)

•

en:organic aciduria (elevated beta-hydroxyisovalerate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate, lactate, tiglylglycine)

•

en:normal serum folate levels

•

en:increased urinary magnesium

•

en:reduced (50%) activity of protoporphyrinogen oxidase (proto oxidase)

•

en:decreased plasma glycine

•

en:igm deficiency

•

en:elevated plasma desmosterol

•

en:decreased platelet derived growth factor

•

en:low or undetectable insulin

•

en:absent or abnormal thyroglobulin

•

en:decreased fbp1 enzyme activity

•

en:decreased mitochondrial complex iii activity in muscle

•

en:disorganized growth plate cartilage

•

en:elevated sed rate

•

en:elevated urinary n,n-dimethylglycine (dmg)

•

en:hypercholesterolemia, 350-550 mg/l in heterozygotes, 650-1000 mg/l in homozygotes

•

en:hypouricemia

•

en:increased prevalence among the native american lumbee indians

•

en:absence of outer dynein arms

•

en:mild to moderate thrombocytopenia (40-120 x 10(9)/l)

•

en:increased urinary porphyrin precursors porphobilinogen (pbg) and delta-aminolevulinic acid (ala) during acute attacks

•

en:androgens increased

•

en:serum ferritin hyperglycosylation

•

en:normal serum transferrin profiles

•

en:normal csf neurotransmitters

•

en:low 25-oh-vitamin d level

•

en:increased urinary 2-hydroxybutyrate

•

en:inappropriately increased urine osmolality

•

en:hemoglobin decreased

•

en:decreased serum 18-ohb

•

en:decreased cobalamin in liver, kidney, and cultured fibroblasts

•

en:isovalerylglycinuria

•

en:increased urinary hga

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increased urine porphyrins at times

•

en:in untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria

•

en:low plasma hdl

•

en:lack of excessive parenchymal iron storage

•

en:leukocyte inclusion bodies (em) - intermediate filaments and ribosome clusters irregularly dispersed in cytoplasm

•

en:liver phosphorylase kinase (phk) deficiency

•

en:low growth hormone levels

•

en:low leukocyte alkaline phosphatase activity

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:low urinary orotic acid

•

en:increased urinary and serum glycine

•

en:increased serum butyryl carnitine

•

en:increased urinary, plasma, and csf n-carbamyl-beta-aminoisobutyric acid

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:increased serum thymidine

•

en:increased serum serotonin in 25%

•

en:increased serum pyruvate in acute stage

•

en:increased serum glycerol

•

en:increased serum bile acids

•

en:increased prv-1 (162860) mrna

•

en:increased plasma pipecolic acid

•

en:increased histidine in blood, urine, and csf

•

en:increased di- and asialo-transferrin characteristic of type 1 pattern

•

en:increased csf and plasma gaba

•

en:increased creatine kinase (ck)

•

en:increased circulating renin level

•

en:markedly reduced iga levels

•

en:markedly decreased coproporphyrinogen oxidase activity (harderoporphyria, lymphocytes)

•

en:phospholipid antibody positive

•

en:mildly elevated hepatic enzymes

•

en:prolonged bleeding time

•

en:unresponsive to acth stimulation

•

en:triglyceride decreased

•

en:translocation or deletions involving 7p13 (severe case reports)

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

en:transient eosinophilia in first decade

•

en:smooth muscle antibodies positive

•

en:severe hypernatremia in neonatal period

•

en:serum transaminase increased

•

en:serum calcium normal

•

en:serum bicarbonate increased

•

en:serum ammonia increased

•

en:reduced ige levels

•

en:reduced ferrochelatase activity

•

en:pyrimidinuria

•

en:prolonged activated partial prothrombin time (appt)

•

en:mildly prolonged bleeding time 10-12 minutes

•

en:normal serum levels of gamma-ggt (231950)

•

en:multi-tailed spermatozoa

•

en:neonatal hypocalcemia

•

en:normal constitutional karyotype

•

en:normal platelet aggregation studies with adp, collagen, and ristocetin

•

en:normal sedimentation rate

•

en:normal serum bile acids

•

en:normal to slightly high alkaline phosphatase

•

en:hypokalemia during periodic paralysis (most patients)

•

en:no hematuria

•

en:no metabolic abnormalities

•

en:oligospermia or azoospermia

•

en:orotic aciduria

•

en:patients with factor xiii alpha subunit deficiency usually also have decreased levels of plasma factor xiii beta subunit

•

en:patient cells show defective transcription-coupled and global genome nucleotide excision repair (ner)

•

en:hyponatremic dehydration, rarely

•

en:foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy

•

en:hypocalciuria

•

en:decreased beta-oxidation of pristanic acid

•

en:decreased serum trypsinogen

•

en:decreased serum insulin-like growth factor-1 (igf1, 147440)

•

en:decreased serum haptoglobin (in some patients)

•

en:decreased plasma serine

•

en:decreased phosphoglucomutase 1 (pgm1) activity (less than 10% of normal values)

•

en:decreased palmitate oxidation

•

en:decreased or absent serum ceruloplasmin

•

en:decreased or absent histidase activity

•

en:decreased levels of component x protein of the pdh complex

•

en:decreased hepatic gaba transaminase activity

•

en:decreased free t(3)/free t(4)

•

en:decreased fibroblast arylsulfatase a

•

en:decreased fibrinogen (in some patients)

•

en:decreased ciliary motility

•

en:decreased beta-galactosidase activity

•

en:decreased telomere length in lymphocytes

•

en:decreased arylsulfatase a (arsa) activity in urine, leukocytes, fibroblasts

•

en:decreased activity of long-chain 3-hydroxyacyl-coa dehydrogenase, long-chain 3-oxoacyl-coa thiolase, and long-chain 2-enoyl-coa hydratase

•

en:cilia show inner and outer dynein arm defects

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin kappa light chain (147200, 2p12) locus

•

en:cerebrospinal fluid oligoclonal bands

•

en:cell studies show increased dna breakage

•

en:calcium normal

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:aprt deficiency measured in erythrocyte lysate

•

en:absence of chylomicrons in lymph and plasma

•

en:abnormal acylcarnitine profiles

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:'compensated hypothyroidism' with increased tsh and normal t4

•

en:variably decreased activity of mitochondrial respiratory complexes i, iii, iv, and v in fibroblasts and muscle

•

en:decreased short/branched-chain acyl-coa dehydrogenase protein levels and enzyme activity

•

en:decreased t cells

•

en:hypocalcemia (64% of adults)

•

en:elevated total bilirubin

•

en:hyperornithinemia

•

en:hypermagnesiuria

•

en:hyperinsulinemia

•

en:hyperglutaminemia

•

en:hypercalciuria (in childhood)

•

en:hyperbilirubinemia, non-hemolytic unconjugated (may rise with fasting or dehydration)

•

en:hyperalphalipoproteinemia

•

en:homozygous 122kb deletion 11p15-p14

•

en:heteroplasmic partial duplication of mtdna

•

en:heparin cofactor ii deficiency (disorder)

•

en:hb h erythrocyte inclusions

•

en:hair bulb tyrosinase present

•

en:granular osmiophilic deposits (grod) in cells resulting in 'fingerprint' profiles ultrastructurally

•

en:glutathione deficiency

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:decreased uros activity (1 patient)

•

en:elevated serum acid phosphatase

•

en:elevated plasma methionine (methioninemia)

•

en:elevated plasma citrulline (citrullinemia)

•

en:elevated plasma campesterol

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:elevated erythrocyte aicar (zmp)

•

en:elevated cholesta-8,14-dien-3-beta-ol in cultured fibroblasts

•

en:elevated apoa-i (1.8x normal) in homozygotes

•

en:elevated androstenedione and testosterone

•

en:elevated 8(9)-cholestenol

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:dehydration

•

en:deficiency or absence of cytochrome b(-245)

•

en:deficiency of laminin in basement membranes

•

en:urine occasionally port-wine in color secondary to porphobilinogen

•

en:decreased erythrocyte plasmalogen

•

en:very long chain fatty acid accumulation

•

en:increased serum thrombopoietin may occur

•

en:mildly elevated acth

•

en:methioninuria

•

en:march myoglobinuria

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low-to-normal platelet count

•

en:liver transaminases normal to slightly increased

•

en:liver function tests normal

•

en:lactic acidosis

•

en:incresased urinary pyruvate

•

en:increased urinary ketones

•

en:increased urinary 2-methyl-3-hydroxybutyric acid

•

en:increased triglycerides (less common)

•

en:increased tissue levels of free fatty acids

•

en:increased serum uric acid

•

en:increased serum pyruvate, mild

•

en:molybdenum cofactor deficiency

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased serum lactate (in some patients)

•

en:increased serum growth hormone levels

•

en:increased serum fgf23

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:increased serum, cerebrospinal fluid, and urinary levels of alpha-aminoadipic semialdehyde

•

en:increased pristanic acid

•

en:increased plasma pristanic acid

•

en:increased n-acetyl-l-aspartic acid (naa) in urine, csf, and blood

•

en:increased il6, episodic

•

en:increased disialo- and asialotransferrin

•

en:increased csf lactate during acute episodes

•

en:increased csf histidine

•

en:increased creatine kinase, mild to moderate

•

en:mitochondrial respiratory chain defects (skeletal muscle, fibroblasts)

•

en:n-glycosylation defect

•

en:impaired n-glycosylation

•

en:reduced igg levels, particularly igg2 subclass

•

en:vitamin k deficiency

•

en:urinary loss of potassium, sodium, calcium, and chloride

•

en:very low iga

•

en:uric acid normal

•

en:transmission electron microscopy (tem) of patient respiratory cilia shows normal 9+2 axonemal composition

•

en:translocation of chromosomes 9 and 13

•

en:tonofibril defect (cross-beta-protein structure)

•

en:subtelomeric deletion of long arm of chromosome 3 (3q29)

•

en:serum testosterone level normal

•

en:serum prolactin increased

•

en:serum creatine kinase may be normal or increased

•

en:serum aldosterone elevated

•

en:secondary decreases in complex i and iv activity

•

en:resistance to activated protein c due to factor v leiden

•

en:proteinuria in those with cystic kidneys

•

en:normal cerebrospinal fluid

•

en:premature chromatid separation (pcs) observed in 5% to 50% cultured lymphocytes during metaphase

•

en:positive antinuclear antibody test

•

en:platelet antibody positive

•

en:plasma aldosterone increased

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:patient cells show defective dna repair in response to irradiation and free radical damage

•

en:patients with factor xiii beta subunit deficiency usually also have decreased levels of plasma factor xiii alpha subunit

•

en:partial deficiency of factor xiii (less common)

•

en:parathyroid hormone (pth) absent to low

•

en:normal serum and mucosal iga

•

en:normal platelet aggregation response to arachidonic acid (aa), adenosine 5'-diphosphate (adp), collagen, and ristocetin

•

en:normal or mildly decreased serum levels of free thyroid hormones

•

en:normal lactate (hcs)

•

en:normal eosinophil peroxidase activity

•

en:impairment of urinary concentration

•

en:urinary excretion of low-molecular-weight proteins, mild

•

en:hypoketotic hypoglycemia

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:decreased iga, igg, igm

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:decreased csf 3-methoxy-4-hydroxyphenylethyleneglycol (mhpg)

•

en:decreased circulating aldosterone level

•

en:decreased apoa-i and apoa-ii

•

en:decreased activity of the e2 subunit (lipoyl transacetylase, 608770) of the pdh

•

en:decreased activity of mitochondrial respiratory complexes i, ii+iii, iv, and v

•

en:decreased acid sphingomyelinase activity (less than 5%)

•

en:decreased-absent intestinal mucosa lactase activity

•

en:cytogenetic breakpoints range from 10q23.3-q26.2

•

en:cystathionine beta-synthase deficiency disease

•

en:cutaneous anergy

•

en:creatine kinase levels may normalize with disease progression

•

en:cerebrospinal fluid lymphocytosis

•

en:decreased renal calcium excretion

•

en:cells show defective transcription-coupled nucleotide excision repair (tc-ner) after uv irradiation

•

en:borderline elevated low-density lipoprotein

•

en:bilirubin may or may not be increased

•

en:azotemia

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

en:accumulation of neutral lipids (triglycerides) in leukocytes, muscle cells, fibroblasts, and cardiomyocytes

•

en:absence of peroxidase staining in neutrophils and monocytes

•

en:abnormal urinary collagen-derived pyridinium crosslinks (absent glc-gal-pyd)

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

en:abnormal liver enzymes (1 patient)

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin)

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:hypocalcemia (male)

•

en:abnormal cartilage collagen on em

•

en:decreased numbers of t regulatory cells

•

en:abnormal eeg in 25% hospitalized patients

•

en:decreased scad activity

•

en:elevated urinary ornithine, lysine, arginine

•

en:hyperuricemia

•

en:decreased serum acth

•

en:hypermagnesemia

•

en:hyperlipidemia

•

en:hyperglycemia

•

en:hyperchloremia (mean 111 mm)

•

en:hyperammonemia, asymptomatic (2-5 times normal)

•

en:hydroxyprolinuria

•

en:homocysteinemia

•

en:high serum guanosine levels

•

en:green serum

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:fatty alcohol:nad+ oxidoreductase deficiency in leukocytes and fibroblasts

•

en:hyperoxalaemia

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:defect in chylomicron secretion

•

en:elevated serum lactate

•

en:decreased switched memory b cells

•

en:decreased serum haptoglobin

•

en:decreased urinary hva, 5-hiaa, and vanillyl mandelic acid (vma)

•

en:defective dna repair

•

en:defective glcnac-pi synthesis

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:elevated alkaline phosphatase (varies from 1.3-20 times age-adjusted upper limit of normal)

•

en:elevated androstenedione

•

en:elevated erythrocyte adenosine deaminase activity

•

en:elevated fasting triglycerides (seen in heterozygotes as well)

•

en:elevated plasma propionylcarnitine

•

en:decreased serum ferritin

•

en:intracellular accumulation of unesterified cholesterol

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased urinary collagen type i n-telopeptide excretion (ntx) during hyperplastic callus formation

•

en:increased urinary cystine, arginine, lysine, and ornithine (hcs and 2p21del)

•

en:metachromatic deposits (sulfatide-containing) in central and peripheral nervous systems and visceral organs

•

en:low csf creatinine

•

en:low levels of serum mg(2+) in the absence of other electrolyte disturbances

•

en:low or absent thyrotropin (tsh)

•

en:low plasma citrulline

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:increased thyroid-stimulating hormone (tsh)

•

en:methylenetetrahydrofolate reductase deficiency

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased serum alanine

•

en:increased susceptibility to ebv infection

•

en:increased serum vascular endothelial growth factor (vegf, 192240)

•

en:increased serum unconjugated bilirubin

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum lactate, particularly after exercise

•

en:increased serum alkaline phosphatase (in some patients)

•

en:increased serum 18-hydroxycorticosterone (18-ohb)

•

en:increased serum, urinary, and csf lysine

•

en:increased rai (radioactive iodine) uptake

•

en:increased interferon-alpha signal

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:increased disialotransferrin and asialotransferrin levels

•

en:increased csf pyruvic acid

•

en:microtubule disorganization in some cilia

•

en:increased csf, plasma, and urinary 3-ortho-methyldopa (3-omd)

•

en:increased csf protein

•

en:peroxisome deficiency

•

en:mildly elevated transaminases

•

en:prothrombin time low

•

en:2-aminoadipic aciduria

•

en:inclusions contain phospholipids, phosphatidylcholine, sphingolipids, gangliosides, mucopolysaccharides

•

en:variable hypoglycemia

•

en:urocanase deficiency

•

en:urinary prostaglandin e

•

en:udp-galactose-4-epimerase deficiency in all cells ('generalized' or 'severe' form)

•

en:type i, classic, decreased antithrombin iii levels

•

en:tay-sachs disease

•

en:skewed x-inactivation in females

•

en:serum triglycerides increased

•

en:serum iron raised

•

en:serum iron low (finding)

•

en:serum creatine kinase may be increased

•

en:rheumatoid factor positive (finding)

•

en:phytanic acid increased

•

en:mild elevation of transaminases

•

en:phosphaturia (in some)

•

en:phosphate normal

•

en:pentagastrin stimulation test

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:no hyperphenylalaninemia

•

en:normal urinary 17-ketosteroids

•

en:normal to increased plasma threonine

•

en:normal plasma and tissue carnitine

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal number of t and b lymphocytes

•

en:normal leukocyte and platelet counts

•

en:nadh-cytochrome b(5) reductase deficiency

•

en:mitochondria dna deletion

•

en:mild eosinophilia may occur

•

en:increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus

•

en:decreased fibroblast iduronate sulfatase

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:at least 2 complementation groups

•

en:decreased cerebrospinal fluid folic acid

•

en:decreased aminoacylase-1 activity

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:decreased activity of aromatic l-amino acid decarboxylase (aadc)

•

en:decreased activity of 3-hydroxyacyl-coa dehydrogenase in various tissues (liver, muscle, fibroblasts)

•

en:cytogenetics - recombinant chromosome 8 characterized by duplication of 8q22.1-qter and deletion of 8pter-p23.1

•

en:cystathioninemia

•

en:creatine kinase normal between episodes

•

en:chronic hypercapnia

•

en:chromosome 11q23.3 deletion

•

en:cd4+/cd8+ ratio is reversed

•

en:branched chain ketoaciduria (alpha-keto isocaproate, alpha-keto-beta methylisovalerate, alpha-keto isovalerate)

•

en:blood urea nitrogen increased

•

en:antineutrophil cytoplasmic antibody

•

en:decreased complement factor d

•

en:amorphous hyaline substance (skin biopsy and visceral organs)

•

en:alkaline phosphatase serum increased

•

en:acute-phase reactants during fever

•

en:accumulation of unprocessed mt-trna intermediates in skeletal muscle cells and fibroblasts

•

en:accumulation of guanidinoacetate in brain

•

en:absent alkyl-dhap synthase activity

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:abnormal urinary oligosaccharides

•

en:abnormal serum transferrin pattern (in some patients)

•

en:abnormal liver function test

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern) loss of complete n-glycans

•

en:abnormal igfr1 function

•

en:4-hydroxyphenylacetic aciduria

•

en:abnormal extrarenal response to ddavp (no increase in von willebrand factor or factor viii)

•

en:decreased clot retraction

•

en:decreased csf arginine

•

en:hyperchloridura

•

en:elevated liver enzymes

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:hereditary angioedema

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:hemoglobin f increased

•

en:gamma-glutamylcysteine deficiency

•

en:fibroblasts have increased activity of serine palmitoyltransferase (spt, 605712)

•

en:fatty acid pattern of serum lecithin shows increased arachidonic acid and decreased linoleic acid

•

en:factor vii deficiency

•

en:erythrocyte porphobilinogen (pbg) deaminase deficiency (exception: type ii aip)

•

en:elevated urinary pge(2) levels

•

en:elevated urinary epinephrine

•

en:elevated serum phosphate in heterozygotes

•

en:elevated serum alpha-fetoprotein

•

en:elevated liver transaminases

•

en:elevated l-2-hydroxyglutaric acid (urine)

•

en:decreased dna excision repair

•

en:electron microscopy of patient respiratory cells shows reduced inner dynein arms and nexin links

•

en:deficiency of saposins a, b, c, and d

•

en:defect in dna repair

•

en:decreased urinary excretion of uromodulin

•

en:decreased udp-glcnac

•

en:decreased tetrasialotransferrin levels

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased or absent ciliary motility

•

en:decreased nk cells (in some patients)

•

en:decreased n-acetylglucosamine-1-phosphotransferase (glcnac - phosphotransferase) using lysosomal enzymes

•

en:decreased mitochondrial complex iii activity (in fibroblasts of 1 patient)

•

en:decreased methylcobalamin (mecbl)

•

en:decreased insulin receptor binding

•

en:decreased galactokinase activity

•

en:abnormal columnization of chondrocytes

•

en:low acth level

•

en:abnormal liver enzymes, intermittent

•

en:increased urinary sulfatide excretion

•

en:mildly elevated creatine phosphokinase

•

en:microduplication of chromosome 5p13

•

en:marked elevation of serum c-reactive protein level (crp 123260)

•

en:low serum concentration of intercellular adhesion molecule 1 (icam1)

•

en:low serum acth

•

en:low or absent iga levels

•

en:low levels of cd11/cd18 (lfa-1 or leukocyte function antigen-1) glycoprotein

•

en:large spermatozoa

•

en:keratan sulfate excretion in urine that decreases with age

•

en:iodide organification defect

•

en:inner and outer dynein arm defects, variable

•

en:increased urine vanillactic acid (vla)

•

en:increased urine oligosaccharides

•

en:increased urinary dopamine

•

en:neutrophilia, both basal and during infections

•

en:increased urinary carnitine

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:increased urinary, plasma, and csf d-2-hydroxyglutaric acid

•

en:increased serum lactate

•

en:increased serum iduronate sulfatase (10-20x)

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:increased serum creatine kinase, mild

•

en:increased serum acyl carnitines

•

en:increased pyruvate in serum and csf

•

en:increased plasma renin activity

•

en:increased lactate: pyruvate ratio (group b)

•

en:increased di- and asialo-transferrin

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:muscle and liver tissue show decreased activities of mitochondrial complexes i, ii, and iii

•

en:normal baseline cortisol

•

en:inappropriately normal or increased plasma hepcidin

•

en:rare occurrences of 9+0 or 8+1 cilia

•

en:abnormal liver enzymes (rare)

•

en:very low density lipoprotein increased

•

en:variable respiratory chain enzyme deficiency

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

en:thyroid dyshormonogenesis 3

•

en:thrombocytosis (in some patients)

•

en:systemic accumulation of very long chain fatty acids (vlcfa)

•

en:some patients carry a deletion of minimum of 8.1 mb on 2q32-q33

•

en:severe thrombocytopenia (30-60 x 10(9)/l)

•

en:severe amyloid angiopathy

•

en:serum creatine kinase may be normal

•

en:serum creatine kinase 20-70 times normal

•

en:serum and csf lactate may be increased

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:prothrombin time increased

•

en:normal or decreased serum erythropoietin (epo, 133170)

•

en:proteinuria

•

en:prolinuria

•

en:presence of rosenthal fibers (cytoplasmic inclusions) in astrocytes

•

en:platelets have decreased number of alpha-granules, large vacuoles, normal number of dense bodies on electron microscopy

•

en:pink urine

•

en:percentage of bone-derived alkaline phosphatase is >60% in patients versus 40% in healthy adult subjects

•

en:patients have supernumerary chromosome - 47,xx(or xy), +der(22), +(11:22)(q23:q11)

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:no lactic acidosis

•

en:no increase in urinary cyclic amp (camp) in response to vasopressin or ddavp

•

en:normal tyrosinase

•

en:normal transferrin isoelectric profile

•

en:normal serum lipoprotein levels

•

en:normal or increased urinary cyclic amp response to pth administration

•

en:increased ck-mb

•

en:pseudohyperkalemia, due to ex vivo efflux of potassium from red cells (in some patients)

•

en:immediate (type i) skin test reactivity

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:decreased levels of plasma factor viii

•

en:decreased levels of coenzyme q10 in skeletal muscle (5-35%)

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:decreased glomerular filtration rate (gfr)

•

en:decreased expression of glycosylphosphatidylinositol-linked proteins (e.g., cd59 107271 and cd24 600274) on hematopoietic cells

•

en:decreased dihydroxyacetone phosphate acyltransferase (dhap-at) activity

•

en:decreased dermal hydroxylysine content

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:decreased conversion of beta-carotene to vitamin a (retinol)

•

en:decreased beta-thromboglobulin

•

en:decreased axonal flare response after intradermal histamine injection

•

en:decreased activity of triosephosphate isomerase

•

en:decreased activity of the pyruvate dehydrogenase (pdh) complex

•

en:decreased activity of glycosylceramidase, galactosylceramidase, ceramidase, and other lysosomal enzymes

•

en:decreased phk activity in liver

•

en:decreased activity of coenzyme q10-dependent respiratory chain complexes

•

en:decreased activities of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acid dehydrogenase complex

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:characteristic urinary coproporphyrin pattern (mostly isomer i (80%) instead of isomer iii)

•

en:bicarbonaturia

•

en:antiphospholipid antibody

•

en:alpha 1 foetoprotein amniotic fluid increased

•

en:aldosterone level increased above normal

•

en:aldolase a deficiency

•

en:adrenocorticotropic hormone, increased

•

en:absent dystrophin on muscle biopsy

•

en:absent axonal flare response to intradermal histamine injection

•

en:hypogammaglobulinemia (in some patients)

•

en:absent anti-insulin receptor antibodies

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:beta-galactosidase deficiency in fibroblasts and white blood cells

•

en:decreased serum free thyroxine

•

en:euvolemia

•

en:hypoalbuminemia (in 83%)

•

en:hypercholesterolemia

•

en:decreased serum leptin

•

en:hyperbilirubinemia in those with liver failure

•

en:hyperammonemia after protein intake

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:hepatic argininosuccinase deficiency

•

en:granular osmiophilic deposits (grod) in cells resulting in 'curvilinear' profiles ultrastructurally

•

en:gonadotrophin increased

•

en:glycogen accumulation in both liver and muscle

•

en:fragmentation of the mitochondrial network

•

en:folate-dependent fragile site at xq28

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:hematuria

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:decreased urocanic acid in blood, urine, and skin cells

•

en:decreased ubiquinone-10

•

en:dicarboxylic aciduria

•

en:electrolyte disturbances from intractable diarrhea

•

en:elevated erythrocyte adenosine deaminase

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:elevated levels of vitamin b12

•

en:deficiency of fructokinase

•

en:elevated liver function tests

•

en:elevated plasma ammonia

•

en:elevated pth (parathyroid hormone)

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated total cholesterol (seen in heterozygotes as well)

•

en:loss of ciliary beat coordination

•

en:low cd4+ count

•

en:low or absent igm levels

•

en:increased chromosomal breaks in response to cross-linking agents and ionizing radiation

•

en:low or normal serum calcium

•

en:low serum ceruloplasmin

•

en:infantile hypophosphatasia

•

en:lysosomal-like storage vacuoles in various tissues

•

en:markedly elevated sodium in urine, sweat, saliva, and stool

•

en:kypokalemia

•

en:increased serum iduronate sulfatase

•

en:increased urinary o-hydroxyphenylacetic acid, phenylpyruvic acid, phenylacetic acid and phenylacetylglutamine

•

en:increased urinary excretion of camp

•

en:increased urinary 2-butanone

•

en:increased serum methionine (reported in 2 cases)

•

en:increased serum ige

•

en:increased serum creatine kinase (patient a)

•

en:increased serum beta-hexosaminidase

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

en:increased neopterin in urine and csf

•

en:multiple organs (lung, liver, spleen, kidney, brain) contain foamy resident cells and histiocytes

•

en:reduced erythrocyte adenosine deaminase activity

•

en:normal parathyroid hormone (female)

•

en:reduced bending capacity of cilia

•

en:3-methylglutaric aciduria

•

en:immunoreactive pc protein

•

en:thyroid hormones increased

•

en:some increase in monosialo- and trisialotransferrin (type 1/2 pattern)

•

en:some cilia show central complex and radial spoke defects

•

en:severely decreased activity of beta-1,4-mannosyltransferase (less than 10% of normal)

•

en:serum chloride level decreased (finding)

•

en:secondary decrease of plasma free carnitine

•

en:respiratory cilia and sperm flagella show reduced coordination of beating activity

•

en:reduced liver and red cell uroporphyrinogen decarboxylase (uro decarboxylase)

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:normal to mildly increased serum creatine kinase

•

en:pseudohypertriglyceridemia in adult form

•

en:prominent leukocytosis (30,000/ml)

•

en:presence of pc mrna

•

en:positive kveim-siltzbach skin test

•

en:plasma triglycerides increased

•

en:phosphorylase kinase normal in muscle

•

en:pcs involves most of all chromosomes of a metaphase

•

en:patient fibroblasts and muscle show decreased activities of mitochondrial complexes i, iii, and iv

•

en:partial terminal deletion of short arm of chromosome 1 (1p36)

•

en:paradoxical increase or no change in serum aldosterone and blood pressure after dexamethasone administration

•

en:inactive mutant form of red cell carbonic anhydrase b in one sibship

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:decreased thyroxine level

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:decreased plasma zinc levels

•

en:decreased plasma free carnitine

•

en:decreased neopterin and biopterin in csf

•

en:decreased hexokinase activity in red blood cells

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased activity of mitochondrial respiratory complexes

•

en:cytogenetic deletion of the terminal region of chromosome 10 (del(10)(q23.3-qter))

•

en:chromosomal rearrangement

•

en:defect in oxidative phosphorylation

•

en:cells show increased sensitivity to ionizing radiation

•

en:anti-iga antibodies commonly present

•

en:albuminuria

•

en:acetyl coa:alpha-glucosaminidase n-acetyltransferase deficiency in fibroblasts

•

en:abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and brainstem

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

en:abnormal liver enzymes (in some patients)

•

en:abnormal karyotype in single reported female patient 46, xx,r(18)(p14q23)

•

en:1,25-dihydroxyvitamin d was elevated in childhood but deficient in adulthood

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern) (in 1 patient)

•

en:defects in mitochondrial oxidative phosphorylation

•

en:deletion of chromosome 18p11.2

•

en:hyperglycemias, postprandial

•

en:epstein-barr viraemia

•

en:homocitrullinuria

•

en:hereditary fructose intolerance

•

en:green urine

•

en:generalized aminoaciduria

•

en:frequent deletions of chromosome 9 in melanoma

•

en:fibronectin decreased

•

en:fibroblasts show decreased activity of mitochondrial respiratory complex i, complex iii, complex iv, and complex v

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:fasting chylomicronemia

•

en:exercise-induced myoglobinuria

•

en:elevated urinary and csf 5-amino-4-imidazolecarboxyamide (aica-riboside)

•

en:elevated alkaline phosphatase

•

en:elevated urinary 2-ethylhydracrylate

•

en:elevated sweat chloride (some)

•

en:elevated serum uric acid concentrations

•

en:elevated serum insulin-to-c-peptide ratio

•

en:elevated il6

•

en:elevated hepatic transaminases

•

en:elevated fasting triglycerides

•

en:elevated csf glycine

•

en:elevated creatine kinase (in some patients)

•

en:elevated ast and ldh, especially infantile-onset

•

en:elevated ammonia

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:deficiency of prolidase activity in erythrocytes, leukocytes, or fibroblasts

•

en:abnormal lipid profile

•

en:increased serum s-adenosylmethionine

•

en:low plasma tryptophan (inflammatory type b)

•

en:low or absent luteinizing hormone (lh)

•

en:low ldl cholesterol

•

en:low free carnitine

•

en:irregular distribution of chondrocytes, enlarged chondrocyte lacunae, excessive fibrous matrix, perilacunar loss of glycosaminoglycan, excessive collagen aggregation

•

en:iron overload (in some patients)

•

en:interstitial or terminal deletion of 18q

•

en:indirect hyperbilirubinemia

•

en:increased urinary hypoxanthine

•

en:increased urinary delta-aminolevulinic acid (ala) and porphobilinogen (pbg) during acute attacks

•

en:increased serum ferritin

•

en:low serum uric acid

•

en:increased serum creatine kinase during episodes

•

en:increased serum creatine kinase (less common)

•

en:increased plasma proglucagon

•

en:increased plasma creatine

•

en:increased nasal-potential difference (some)

•

en:increased bile acid intermediates (dhca and thca)

•

en:increased 18-oxocortisol

•

en:iga antiendomysial antibodies (ema)

•

en:hyponatremia in infancy

•

en:hypomethioninemia

•

en:low serum alpha-fetoprotein (recessive)

•

en:methemoglobin concentration 12 to 19%

•

en:hypermethioninemia, progressive

•

en:skeletal muscle shows decreased activities of mitochondrial respiratory complexes i, iii, iv, and v

•

en:variable hyperlipidemia

•

en:urine uric acid decreased

•

en:urine odor, maple syrup

•

en:upregulation of alpha-interferon-stimulated genes

•

en:tyrosine iodination defect

•

en:translocation (x,7)(p11.3,q11.21) - in some patients

•

en:transcobalamin ii deficiency

•

en:thyroid hormone organification defect

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:subepithelial fibrin deposition with inflammation (pseudomembranous inflammation) of mucosal tissues

•

en:serum calcium elevated

•

en:normal igg levels

•

en:rheumatoid factor negative

•

en:pyruvate-induced insulin secretion

•

en:protein total decreased

•

en:abnormal oral glucose tolerance

•

en:presence of glial fibrillary acidic proteins (gfap) in astrocytes

•

en:partial deficiency of factor xii(c)

•

en:no hyperuricemia

•

en:no evidence of common prenatal infections

•

en:normal to elevated serum 1,25-dihydroxycholecalciferol (calcitriol)

•

en:normal lysyl hydroxylase activity

•

en:hypokalemia during attacks

•

en:presence of the philadelphia chromosome (translocation of 9q34 and 22q11) in greater than 95% of patients

•

en:hyperlipoproteinemia type iib

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:decreased methionine synthase activity

•

en:decreased lysosomal alpha-mannosidase activity in plasma and leukocytes

•

en:decreased levels of plasma vwf antigen

•

en:decreased levels of cpt2 protein

•

en:decreased intracellular fmr protein

•

en:decreased heme-heme interaction (e.g. hb kanagawa 141800.0169)

•

en:decreased glycerol kinase activity

•

en:decreased csf glycine

•

en:decreased asparagine levels (in some patients)

•

en:decreased activity of nadph oxidase

•

en:csf pleocytosis, particularly of lymphocytes

•

en:decreased or absent d-bifunctional protein activity and protein

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:chromosomal mosaicism in fibroblast and/or peripheral lymphocytes no consistent karyotypic finding

•

en:bleeding time normal

•

en:antithrombin iii decreased

•

en:anomalies of cholesterol levels

•

en:alkaline phosphatase normal

•

en:alanine aminotransferase increased

•

en:accumulation of cholesterol esters in various tissues

•

en:abnormal urinary mucopolysaccharides (elevated unsaturated nonsulfated disaccharides and decreased unsaturated 6-sulfated disaccharides)

•

en:hyperkalemia during attacks

•

en:decreased neopterin and biopterin in urine

•

en:continuous urinary iodine loss

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:elevated serum iron

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:decreased serum cholesterol (in some)

•

en:hypercalciuria (in some patients)

•

en:homocystinemia

•

en:hla-b27 haplotype association (95% patients)

•

en:growth cartilage disorganized, with islands of cells and abnormal collagen arrangement

•

en:glycinuria

•

en:gaucher disease, type 1

•

en:fibroblasts have decreased levels of ceramide, sphingomyelin, lactosylceramide, ceramide trihexoside, and globoside

•

en:enzyme replacement therapy has not been effective

•

en:granular osmiophilic deposits (grod) in cells resulting in 'rectilinear' profiles ultrastructurally

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:disproportionate work-related increase in blood lactate and pyruvate

•

en:decreased serum insulin-like growth factor-1 (igf1)

•

en:decreased serum factor h (atypical hus)

•

en:elevated plasma and urine succinylacetone

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:detection by rt-pcr, southern blot analysis, and fish for primary diagnosis and follow up for residual disease

•

en:dilated rough endoplasmic reticulum (rer)

•

en:diverse tissue cell types (vascular endothelial cells, adipocytes, schwann cells, leukocytes) have membrane-lined cytoplasmic vacuoles with amorphous and filamentous material

•

en:electron microscopy of patient respiratory cells shows absent outer dynein arms

•

en:elevated csf amino acids (arginine, ornithine, aspartate, threonine, glycine, and methionine)

•

en:elevated il1-beta

•

en:increased long-chain acylcarnitine

•

en:increased plasma phytanic acid

•

en:increased or normal serum growth hormone (gh, 139250)

•

en:increased oxygen affinity (e.g. hb nunobiki 141800.0109)

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased plasma levels of bile acid intermediates

•

en:increased serum levels of free plasma thyroid hormones

•

en:increased renal tubular phosphate reabsorption

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased serum arylsulfatase a.

•

en:increased serum bilirubin due to hemolysis

•

en:increased serum prostaglandin e2

•

en:increased toxic thioguanine nucleotides (tgns) on standard doses of thiopurine drugs

•

en:increased igg level

•

en:increased urinary acetoacetic acid

•

en:increased interleukin 10

•

en:high urinary copper

•

en:increased csf and plasma ghb

•

en:hypercholesterolemia (in 75%)

•

en:increased urinary propionyl glycine

•

en:high-normal plasma triglyceride concentration (in heterozygotes)

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:high ft3/ft4 ratio

•

en:high serum osmolality

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:hypobetalipoproteinemias

•

en:increased csf, plasma, and urinary 3-methoxytyrosine

•

en:hypocitraturia

•

en:hypoglycemia, fasting

•

en:hypoglycorrhachia (low glucose in csf)

•

en:i-cell disease

•

en:inclusion bodies (membrane-bound vacuoles) in fibroblasts

•

en:increased cerebrospinal fluid (csf) protein (>100mg/dl)

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:reduced beating amplitudes in cilia

•

en:increased urinary thymine

•

en:reticulocytosis

•

en:patient cells show increased chromosome breakage

•

en:phosphaturia

•

en:prolonged prothrombin time (pt)

•

en:raised c-reactive protein

•

en:reduced erythrocyte glucose/hexose transport

•

en:reduced serum uric acid

•

en:serum cholesterol low or normal

•

en:other cytogenic abnormalities have been associated with dgs phenotype including monosomy 10p13, 11p13, and 4q21

•

en:serum cortisol decreased

•

en:serum lactate is usually normal

•

en:severely decreased palmitate oxidation

•

en:type 1 collagen overmodification

•

en:tyrosinemia

•

en:t cells may be increased or decreased

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:occasional hypomagnesemia

•

en:lack of lysosomal inclusions in visceral organs

•

en:normal activity of von willebrand factor-cleaving protease

•

en:lysyl hydroxylase deficiency

•

en:median mean platelet volume (mpv) 18fl

•

en:methylglutaconic aciduria, mild

•

en:mildly elevated hdl in heterozygotes

•

en:multiple autoantibodies

•

en:normal-to-slightly decreased glcnac phosphotransferase using artificial substrate (e.g., alpha-methylmannoside)

•

en:normal axonal flare response after intradermal histamine injection

•

en:no mucopolysacchariduria

•

en:normal free urinary cortisol

•

en:normal growth hormone responses to arginine, l-dopa, and propranolol stimulation

•

en:normal lysl hydroxylase activity

•

en:normal or mildly increased serum gamma-ggt (231950)

•

en:normal plasma phytanic acid

•

en:normal sweat electrolytes

•

en:no evidence of perinatal infection

•

en:hair bulbs will pigment when incubated with tyrosine

◀

Génériques

[F] [H]

›

en:increased

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6880983 • caches: c1=18 c2=1008 c3=2

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