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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C1868495

Associations d'idées

[F]

›

1000

en:serum and csf lactate may be increased

•

en:decreased nasal nitric oxide

•

en:poor anticoagulant response to exogenous activated protein c as measured by the activated partial thromboplastin time (aptt)

•

en:decreased serum factor i (atypical hus)

•

en:fragmentation of the mitochondrial network

•

en:increased urinary uracil

•

en:low growth hormone levels

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal platelet aggregation response to epinephrine, adp, collagen, and ristocetin

•

en:aldosterone level increased above normal

•

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

•

en:prominent leukocytosis (30,000/ml)

•

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

•

en:increased coproporphyrin isomer iii:i ratio (hcp, feces)

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:deficiency of creatine phosphate in brain

•

en:iron binding capacity total increased

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:normal lysyl hydroxylase activity

•

en:hyperchloremia (mean 109 mm)

•

en:elevated serum protein

•

en:disturbed visual and brainstem auditory evoked responses indicative of cns demyelination

•

en:deficiency or absence of p67-phox protein (type ii)

•

en:cutaneous anergy

•

en:elevated plasma ammonia

•

en:holocarboxylase synthetase deficiency

•

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

•

en:increased urinary cortisol/cortisone ratio

•

en:isochromosome 12p (i(12p))

•

en:normal arterial oxygen saturation

•

en:1.61- and 1.76-mb microduplication of 3q29

•

en:alpha-galactosidase a deficiency in plasma, leukocytes, or fibroblasts

•

en:normal serum complement levels

•

en:decreased activity of 2-oxoacid dehydrogenases

•

en:low apolipoprotein

•

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

•

en:delta-1-pyrroline-5-carboxylate (p5c) levels increased in plasma

•

en:mildly increased serum lactate

•

en:serum copper decreased

•

en:low acth level

•

en:iron deposition in basal ganglia, liver, pancreas, visceral organs detectable by ct and mri

•

en:urine odor, maple syrup

•

en:increased il-8

•

en:decreased clot retraction

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:elevated hdl (2-6x normal) in homozygotes

•

en:exercise-induced myoglobinuria in adults

•

en:increased fibroblast free sialic acid

•

en:increased serum lactate

•

en:low or normal serum igm

•

en:mildly abnormal glycosylation of serum transferrin, type 1 pattern

•

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

•

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

•

en:decreased or absent serum citrulline

•

en:excessive iodide trapping

•

en:hyperarginemia

•

en:hyperoxaluria

•

en:mitochondrial malic enzyme reduced

•

en:paraproteinemia

•

en:decreased acid beta galactosidase protein and activity

•

en:impaired n-glycosylation

•

en:phospholipid antibody positive

•

en:occasionally mild elevation of csf protein

•

en:lysyl pyridinoline/hydroxylysyl pyridinoline (lp/hp) ratio approximately 1

•

en:low total serum protein

•

en:decreased urinary excretion of uromodulin

•

en:hypertriglyceridemia, transient

•

en:hyperlipidemia

•

en:hypercholesterolemia (10%)

•

en:elevated plasma branched chain amino acids (leucine, isoleucine, valine)

•

en:aminoaciduria (less common)

•

en:abnormal serum lipoprotein levels (in 3 of 10 patients)

•

en:duplication or deletion at 11p15.5

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:increased serum erythropoietin (epo, 133170)

•

en:decreased csf pyridoxal

•

en:round, yellow-brown dha urine crystals

•

en:increased urinary 2-oxoglutaric acid

•

en:increased susceptibility to ebv infection

•

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

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:hyposialylation of o-linked serum glycans

•

en:hypoprebetalipoproteinemia

•

en:hypokalemia

•

en:variable respiratory chain enzyme deficiency

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:decreased lipid-linked oligosaccharides (llo)

•

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

•

en:decreased von willebrand factor

•

en:elevated serum iron

•

en:hemophilia b

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:increased urinary vanillylmandelic acid (vma)

•

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

•

en:translocation between 18q21 and 14q32

•

en:reduced ferrochelatase activity

•

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

•

en:laboratory abnormalities

•

en:alpha ketoadipic aciduria

•

en:decreased serum complement factor h

•

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

•

en:elevated creatine kinase (in some patients)

•

en:increased cellular sensitivity to uv light

•

en:increased urinary levels of maoa substrates (endogenous bioamines)

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:increased csf taurine

•

en:increased urinary carnitine

•

en:increased il6, episodic

•

en:increased growth hormone (in 1 of 2 patients)

•

en:absent platelet agglutination in presence of ristocetin

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:hypogammaglobulinemia

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:decreased carnitine in serum, muscle, heart, and liver

•

en:iron low

•

en:intracellular pas-positive polyglucosan inclusion bodies ('lafora' bodies) can be found in various tissues (brain, liver, muscle, heart, skin)

•

en:polymorphonuclear leukocytosis, episodic

•

en:myoglobinuria (reported in 1 patient)

•

en:presence of serum anti-lu3 antibodies

•

en:elevated total bilirubin

•

en:hypoglycemia, intermittent

•

en:increased succinyladenosine (s-ado) in serum, urine, and csf

•

en:karyomegaly may be found in other visceral organs

•

en:normal csf neurotransmitters

•

en:normal lactate (hcs)

•

en:serum ferritin hyperglycosylation

•

en:tyrosine iodination defect

•

en:neutropenia (in 1 patient)

•

en:increased chromosomal rearrangements (bone marrow and fibroblast culture)

•

en:low plasma hdl

•

en:increased serum creatine kinase during episodes

•

en:increased serum arylsulfatase a.

•

en:increased csf 3-methoxytyrosine (3-mt)

•

en:abnormal cardiolipin subspecies composition

•

en:hypoketotic hypoglycemia

•

en:hypoglycemia, fasting

•

en:hyperprolinemia (5-10 times normal)

•

en:high ornithine

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:reduced total and free carnitine in plasma and tissue

•

en:normal transferrin saturation

•

en:decreased eno3 activity

•

en:decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes

•

en:mildly elevated creatine phosphokinase

•

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

•

en:telomere shortening

•

en:decreased dermal hydroxylysine content

•

en:serum carnitine deficiency

•

en:normal to mildly increased serum parathyroid hormone (pth)

•

en:serum gastrin increased

•

en:liver function tests normal

•

en:increased serum lipoproteins

•

en:increased plasma levels of very long-chain fatty acids (vlcfa)

•

en:elevated serum phosphate in heterozygotes

•

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

•

en:decreased plasma glycine

•

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

•

en:increased gamma-aminobutyric acid in plasma, urine, and cerebrospinal fluid (csf)

•

en:normal erythrocyte gs activity

•

en:markedly reduced iga levels

•

en:low or absent growth hormone (gh)

•

en:cerebrospinal fluid oligoclonal bands

•

en:increased ck-mb

•

en:inappropriately normal or increased plasma hepcidin

•

en:elevated levels of vitamin b12

•

en:serum thiamine is normal

•

en:normal serum erythropoietin (epo, 133170)

•

en:foam cells in bone marrow and renal glomeruli

•

en:abnormally triglyceride-rich low and high density lipoproteins and beta-migrating very low density lipoproteins

•

en:decreased activity of dihydrofolate reductase

•

en:decreased activity of thiopurine s-methyltransferase

•

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

•

en:defective (ca2+) mobilization in t cells

•

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

•

en:increased circulating renin level

•

en:increased csf and plasma gaba

•

en:increased serum alpha-interferon (ifna1, 147660)

•

en:reduced electroretinogram (scotopic > photopic) becoming extinguished in older patients

•

en:aldolase a deficiency

•

en:orotic aciduria

•

en:normal iga levels

•

en:normal red cell counts

•

en:normal serum 25-hydroxyvitamin d3

•

en:oestradiol decreased

•

en:prolonged activated partial prothrombin time (appt)

•

en:parathyroid hormone level increased

•

en:partial deficiency of factor xiii(c)

•

en:plasma aldosterone normal

•

en:platelet function test normal

•

en:predominance of the d-stereoisomer

•

en:increased urinary dopamine

•

en:prolonged partial thromboplastin time

•

en:normal csf 5-hydroxyindoleacetic acid (5-hiaa)

•

en:methylmalonic acidemia

•

en:normal cd8+/cd4+ ratio

•

en:normal aldosterone

•

en:mitochondria dna deletion

•

en:mildly elevated blood ammonia

•

en:methylsuccinic aciduria

•

en:methylenetetrahydrofolate reductase deficiency

•

en:marked elevation of erythrocyte sedimentation rate

•

en:low rai (radioactive iodine) uptake

•

en:low leukocyte alkaline phosphatase activity

•

en:low absolute lymphocyte count

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:ketonuria, acute

•

en:increased urinary tiglylglycine

•

en:increased urinary orotic acid (in some patients)

•

en:serum acid phosphatase normal

•

en:rapid radioactive iodide (rai) discharge after thiocyanate or perchlorate

•

en:abnormal oral glucose tolerance

•

en:serum albumin low result

•

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

•

en:ceruloplasmin decreased

•

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

•

en:blood pyruvic acid increased

•

en:a subset of group b patients have absence of pc protein and mrna

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:antiphospholipid antibody

•

en:anti-factor viii positive

•

en:alanine aminotransferase increased

•

en:absent igg2 subclass

•

en:absent dystrophin on muscle biopsy

•

en:absent axonal flare response to intradermal histamine injection

•

en:absent anti-insulin receptor antibodies

•

en:absent 7-dehydrocholesterol

•

en:abnormal serum transferrin pattern by isoelectric focusing (hyposialylation)

•

en:abnormal myelination in sural nerve biopsies

•

en:serum calcium normal

•

en:abnormal liver enzymes in those with hepatic cysts or fibrosis

•

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

•

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

•

en:'cloudy' or 'pink' blood (lipemia)

•

en:widespread interstitial fibrosis (visceral organs)

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:urinary excretion of 2-ethyl-3-keto-hexanoic acid

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

en:thyroid peroxidase defect

•

en:tenascin x deficiency (serum and fibroblasts)

•

en:some cilia show central complex and radial spoke defects

•

en:serum triglycerides increased

•

en:serum prolactin decreased

•

en:serum iron raised

•

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

•

en:hypercalciuria (in some patients)

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:decreased antithrombin iii (rare)

•

en:defective mitochondrial respiratory enzyme activity

•

en:defective dna repair after ultraviolet radiation damage

•

en:decreased telomere length in lymphocytes

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased respiratory chain complex iii activity in multiple tissues

•

en:decreased phgdh activity (fibroblasts)

•

en:decreased or absent ciliary motility

•

en:decreased nk cells (in some patients)

•

en:decreased mitochondrial complex iii activity in muscle

•

en:decreased hexokinase activity in red blood cells

•

en:decreased grhpr activity

•

en:decreased galactokinase activity

•

en:decreased alpha-n-acetylgalactosaminidase activity (less than 2% of control)

•

en:deficiency or absence of p91-phox (300481) protein

•

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

•

en:cystathioninuria (lab finding)

•

en:creatine phosphokinase serum increased

•

en:chromosome 11q23.3 deletion

•

en:broad tissue deposition of amylopectin-like material

•

en:blood glucose normal

•

en:ballooned neurons

•

en:aldosterone concentration below normal

•

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

•

en:abnormal serum liver enzyme levels

•

en:abnormal liver function test

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:3-methylglutaconic aciduria (3-mgc)

•

en:chondroitin 6-sulfate excretion in urine

•

en:defect in dna repair

•

en:deficient ribose-s-phosphate isomerase (rpi) in fibroblasts

•

en:increased serum parathyroid hormone (pth)

•

en:hyperphosphatemia, transient

•

en:increased serum lactate (in some patients)

•

en:increased serum ferritin

•

en:increased serum c26-bile-acid intermediates

•

en:increased serum bile acid concentration during pregnancy, resolves postpartum

•

en:increased serum acyl carnitines

•

en:increased plasma proglucagon

•

en:increased plasma and urinary pipecolic acid

•

en:increased fas ligand

•

en:increased erythropoietin

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

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

•

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

•

en:hypomethylation of satellite repeats on chromosome 1, 9, and 16

•

en:hypocalcemia (male)

•

en:hyperglycemia

•

en:echocardiogram abnormal

•

en:hyperammonemia after protein intake

•

en:high serum osmolality

•

en:hemoglobin decreased

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

en:gonadotrophin increased

•

en:generalized amyloid deposition

•

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

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:fasting hyperinsulinemia

•

en:elevated urinary free sialic acid (n-acetylneuraminic acid)

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:elevated testosterone

•

en:elevated pregnenolone

•

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

•

en:elevated plasma stigmasterol

•

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

•

en:intermittent 3-methylglutaconic aciduria

•

en:mildly elevated urinary mevalonic acid

•

en:mildly elevated acth

•

en:microduplication of chromosome 5p13

•

en:methioninuria

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low plasma tryptophan (inflammatory type b)

•

en:low or absent thyroid-stimulating hormone (tsh)

•

en:low cholesterol esterification rates

•

en:leukocytosis

•

en:ketosis

•

en:isovaleric acidemia

•

en:intracellular redox disturbance (reduced cytoplasm and oxidized mitochondria (group b))

•

en:indirect hyperbilirubinemia

•

en:monomeric igm

•

en:increased urinary organic acids (in some patients)

•

en:increased urinary disaccharides (mannosyl-n-acetylglucosamine)

•

en:increased urinary dicarboxylic acid, transient

•

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

•

en:increased urinary creatine

•

en:increased urinary catecholamines (with pheochromocytoma)

•

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

•

en:increased tissue long-chain fatty acids

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased serum unconjugated bilirubin

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:increased serum deoxyuridine

•

en:increased serum ammonia (group b)

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:moderately decreased to normal phk activity in skeletal muscle

•

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

•

en:increased prevalence among the native american lumbee indians

•

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

•

en:vitamin k deficiency

•

en:very low leptin level

•

en:very low igg

•

en:urine uric acid decreased

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:type 1 collagen overmodification

•

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

•

en:t1 transport protein (glucose-6-phosphate translocase) defect

•

en:severe amyloid angiopathy

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin lambda light chain (147220, 22q11.2) locus

•

en:serum lactate is usually normal

•

en:serum iron normal

•

en:reduced cd4+ count and proportionally increased cd8+ count

•

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

•

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

•

en:myoglobinuria after exertion

•

en:pink urine

•

en:phosphaturia may disappear after a long period of time

•

en:patient cells show abnormal mitochondrial morphology

•

en:pancreatic trypsinogen deficiency

•

en:normal transferrin isoelectric profile

•

en:normal to mildly increased mucopolysacchariduria

•

en:normal serum biotin concentration

•

en:normal serum and mucosal iga

•

en:normal renin level

•

en:normal or mildly reduced sphingomyelinase activity

•

en:normal or mildly increased thyroid-stimulating hormone (tsh)

•

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

•

en:normal exocrine pancreatic function

•

en:normal ellsworth-howard test, normal urinary camp response to parathyroid hormone (pth) administration

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:serum transferrin glycosylation is normal

•

en:increased plasma branched-chain fatty acids

•

en:decreased serum androgens

•

en:elevated long chain fatty acids

•

en:elevated csf glycine

•

en:elevated alkaline phosphatase (in one patient)

•

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

•

en:deletion of chromosome 18p11.2

•

en:deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity

•

en:decreased tissue and serum alkaline phosphatase

•

en:decreased testosterone level

•

en:decreased switched memory b cells

•

en:decreased sulfite oxidase activity

•

en:decreased serum vitamin a

•

en:decreased serum haptoglobin

•

en:decreased serum and salivary lactoferrin has been described in 1 family

•

en:decreased serum acth

•

en:elevated serum iron and iron binding capacity

•

en:decreased pyruvate carboxylase (pc) activity (less than 5%)

•

en:decreased platelet derived growth factor

•

en:decreased plasma total and free carnitine

•

en:decreased plasma and urinary ornithine

•

en:decreased methylmalonyl-coa mutase activity

•

en:decreased dna polymerase-gamma (polg, 174763) activity

•

en:decreased csf 5-hydroxyindoleacetic acid (5hiaa)

•

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

•

en:complex organic aciduria

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:decreased activity of mitochondrial complex i

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:cystathionine beta-synthase deficiency disease

•

en:increased neopterin in urine and csf

•

en:elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia)

•

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

•

en:elevated serum parathyroid hormone (pth)

•

en:hyperprolinemia (10-15 times normal)

•

en:increased ige level

•

en:elevated urinary 2-ethylhydracrylate

•

en:increased histidine in blood, urine, and csf

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:increased csf lactate

•

en:increased biliverdin in bodily fluids

•

en:impaired platelet aggregation

•

en:immunoreactive pc protein

•

en:immotile cilia

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:hypokalemia during periodic paralysis (most patients)

•

en:hypogammaglobulinemia, profound

•

en:hypocalcemia

•

en:hypertriglyceridemia (in some patients)

•

en:increased frequency of premature centromere disjunction (pcd) in cultured fibroblasts, esp. chromosome 3

•

en:hypercholesterolemia (disorder)

•

en:fluorescence in situ hybridization specific probe for mds critical region

•

en:hyperchloridura

•

en:epstein-barr viraemia

•

en:elevated urinary epinephrine

•

en:female carriers show markedly skewed x inactivation

•

en:fibronectin decreased

•

en:fasting chylomicronemia

•

en:frequent deletions of chromosome 9 in melanoma

•

en:hyperammonemia, episodic

•

en:glutathione deficiency

•

en:high-resolution electron microscopy tomography shows absence of projection c2b at the central pair (cp) apparatus of cilia

•

en:high resolution g- and t- banding karyotype shows reciprocal translocation of distal 9p-6q

•

en:high sister chromatid exchange (sce) rate

•

en:glucose-6-phosphate deficiency

•

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

•

en:increased csf histidine

•

en:increased csf immunoglobulin levels

•

en:increased csf interferon alpha

•

en:increased serum and urinary lactate

•

en:increased free erythrocyte protoporphyrin

•

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

•

en:increased serum alanine (1 patient)

•

en:increased serum creatine kinase, mild

•

en:increased serum growth hormone levels

•

en:hyperbilirubinemia in those with liver failure

•

en:increased bone-specific alkaline phosphatase

•

en:hypogammaglobulinemia (in some patients)

•

en:increased 18-hydroxycortisol

•

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

•

en:impaired response to gm-csf

•

en:impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise

•

en:immunoglobulin a decreased

•

en:hypophosphatemia (less common)

•

en:hypocitraturia

•

en:hypoalbuminemia (in 83%)

•

en:hyperuricuria

•

en:hyperglycinuria (disorder)

•

en:hypercholesterolemia (in 75%)

•

en:hyperchloremia (mean >110 mm in both dominant and recessive)

•

en:increased serum lysine (group b)

•

en:increased serum lactate hydrogenase

•

en:low cd4+ count

•

en:increased serum uric acid

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:normal igm levels

•

en:normal constitutional karyotype

•

en:normal b12

•

en:normal-to-decreased plasma glycine (fasting)

•

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

•

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

•

en:mild elevation of transaminases

•

en:mildly increased serum creatine kinase (in some patients)

•

en:mildly decreased serum creatinine

•

en:microscopic hematuria

•

en:metabolic acidosis

•

en:low serum levels of branched-chain amino acids

•

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

•

en:leukotriene c4 synthetase deficiency

•

en:lactic acidemia (2p21del)

•

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

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:increased urinary thiosulfate

•

en:increased urinary sulfite

•

en:increased urinary sulfatides

•

en:increased urinary oligosaccharides

•

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

•

en:increased urinary magnesium

•

en:increased urinary hypoxanthine

•

en:increased urinary excretion of coproporphyrin i

•

en:homocystinuria (in some patients)

•

en:decreased dna excision repair

•

en:high urinary orotic acid

•

en:bone marrow hypoplasia (in some patients)

•

en:decreased beta-galactosidase activity

•

en:decreased atp synthase in muscle, heart, liver, and brain

•

en:decreased adiponectin

•

en:decreased activity of the pdh phosphatase

•

en:decreased activity of succinic semialdehyde dehydrogenase (ssadh, aldh5a1), less than 5% of control values

•

en:decreased activity of galactocerebrosidase

•

en:cytoplasmic lamellar inclusions consistent with neuronal ceroid lipofuscinosis (in some patients)

•

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

•

en:carnitine deficiency

•

en:calcium normal

•

en:b lymphocytopenia

•

en:aprt deficiency measured in erythrocyte lysate

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:anti-tissue transglutaminase antibodies (anti-ttg)

•

en:aminoaciduria (in some patients)

•

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

•

en:adenylosuccinase deficiency (finding)

•

en:absence of outer dynein arms

•

en:abnormal n-glycosylation of transferrin

•

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

•

en:abnormal igfr1 function

•

en:abnormal fecal fat

•

en:abnormal acylcarnitine profiles

•

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

•

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

•

en:decreased copper, iron, zinc

•

en:decreased hdl cholesterol

•

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

•

en:elevated antinuclear antibody (ana) (speckled pattern)

•

en:hepatic ornithine transcarbamylase deficiency

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:hematuria, macroscopic and microscopic

•

en:glycinuria

•

en:glucose breath hydrogen test shows malabsorption of glucose and galactose

•

en:galactosemia

•

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

•

en:excessive urinary 5-oxo-l-proline

•

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

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:elevated cerebrospinal fluid (csf) protein

•

en:elevated afp (endodermal sinus tumor)

•

en:decreased metabolism of thiopurine drugs

•

en:dolichyl-p-man:man(5)glcnac(2)-pp-dolichyl mannosyltransferase deficiency

•

en:dehydroepiandrosterone (dhea) at upper level of normal range

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:deficiency or absence of p47-phox protein (type i)

•

en:deficiency of serum properdin p factor

•

en:decreased uros activity (1 patient)

•

en:decreased udp-glcnac

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:decreased switched memory b cells (in some patients)

•

en:decreased serum trypsinogen

•

en:decreased or normal plasma insulin

•

en:decreased monoamine oxidase a activity

•

en:normal or mildly reduced serum cobalamin

•

en:heparin cofactor ii deficiency (disorder)

•

en:normal to increased plasma threonine

•

en:increased serum creatine kinase (patient a)

•

en:low to low-normal magnesium

•

en:low to absent apo a-i (detroit 107680.0011)

•

en:low or absent adrenocorticotropic hormone (acth)

•

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:large spermatozoa

•

en:lactic acidosis

•

en:increased urinary hga

•

en:increased urinary 2-butanone

•

en:increased uric acid with exercise

•

en:increased serum thymidine

•

en:increased peripheral blood monocytes

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:increased osmotic fragility

•

en:increased gamma-interferon

•

en:increased excretion of urobilinogen

•

en:increased disialotransferrin and asialotransferrin levels

•

en:increased csf interferon

•

en:increased cross-linked c-terminal telopeptide of type i collagen

•

en:impaired creatine uptake in fibroblasts

•

en:hypertriglyceridemia

•

en:hypermagnesiuria

•

en:hyperalphalipoproteinemia

•

en:homocysteinemia (in some patients)

•

en:hereditary angioedema

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:mild elevation of cholesterol

•

en:glycogen storage disease type vii

•

en:premature separation of centromeric heterochromatin

•

en:normocalcemia

•

en:vacuolated lymphocytes

•

en:urinary excretion of 2-ethyl-3-hydroxy-hexanoic acid

•

en:transcobalamin ii deficiency

•

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

•

en:stimulation of sympathetic fibers results in release of dopamine, not norepinephrine

•

en:some cilia show abnormal beating patterns or immotility

•

en:shortened telomeres (1 patient)

•

en:secondary decreases in complex i and iv activity

•

en:reduced unsaturated serum cobalamin binding capacity

•

en:reduced beating amplitudes in cilia

•

en:pt normal

•

en:postprandial hyperglycemia (early in disease course)

•

en:myoglobinuria with extreme exertion

•

en:plasma ammonia not elevated

•

en:plasma aldosterone increased

•

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

•

en:partial deletion of long arm of chromosome 11 (11q23-qter)

•

en:partial deficiency of factor xii(c)

•

en:orotic acid crystalluria

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:occasional hypomagnesemia

•

en:no lactic acidosis

•

en:normal serum creatine kinase

•

en:normal collagen type i studies

•

en:n-glycosylation defect

•

en:hepatic lipase deficiency (disorder)

•

en:lysyl hydroxylase deficiency

•

en:glutaric acidemia type 1

•

en:rhabdomyolysis in response to alcohol

•

en:alkaline phosphatase normal

•

en:abnormal eeg in 25% hospitalized patients

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:4-hydroxyphenylpyruvic aciduria

•

en:3-methylglutaconic aciduria

•

en:urocanase deficiency

•

en:urinary prostaglandin e

•

en:transient eosinophilia in first decade

•

en:transaminitis

•

en:submucosal macrophages filled with sphingolipids

•

en:severely impaired ciliary motility

•

en:serum corticosterone increased

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:axonemes show normal structure

•

en:recurring t(11,14) and t(14,19)(q32,q13.1) translocations

•

en:pyrimidinuria

•

en:prothrombin time low

•

en:prolidase deficiency

•

en:premature chromosome condensation

•

en:platelet aggregation decreased

•

en:phytanic acid increased

•

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

•

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

•

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

•

en:folic acid deficiency

•

en:no hematuria

•

en:antithrombin iii decreased

•

en:sialylation defects

•

en:bilirubin may or may not be increased

•

en:deficiency of fructokinase

•

en:foam cells in visceral organs and cns

•

en:carnitine palmitoyltransferase ii deficiency (25% of controls)

•

en:elevated urinary hyaluronic acid levels

•

en:elevated serum alpha-fetoprotein

•

en:elevated serum acid phosphatase

•

en:elevated prothrombin time

•

en:elevated plasma phytanic acid

•

en:elevated ammonia

•

en:elevated 1,25(oh)2 d3

•

en:disorganized growth plate cartilage

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:extremely low creatine excretion

•

en:defective glcnac-pi synthesis

•

en:decreased methionine synthase activity

•

en:decreased thrombospondin

•

en:cytogenetic deletion of chromosome 19q13

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:decreased fibroblast alpha-mannosidase

•

en:cerebrospinal fluid lymphocytosis

•

en:decreased mitochondrial complex iii activity (in liver, muscle, and fibroblasts)

•

en:decreased or absent apolipoprotein a-i

•

en:decreased plasma apolipoprotein c-ii

•

en:decreased serum factor h (atypical hus)

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:keratan sulfaturia in some patients

•

en:interstitial deletion of 17p11.2 (most common is 3.7mb)

•

en:irregularly shaped sperm heads

•

en:karyotype analysis normal finding

•

en:myoglobinuria after exertion (in some patients)

•

en:ketonemia

•

en:low or undetectable insulin

•

en:normal dermal hydroxylysine content

•

en:normal extrarenal responses to ddavp administration

•

en:increased urinary n-acetylated amino acids

•

en:normal liver histology

•

en:increased very-long chain fatty acids

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:increased urinary ketones

•

en:increased platelet aggregation with ristocetin

•

en:increased urinary glutaric acid

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased urinary catecholamines

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased tissue long-chain acylcarnitines

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:increased serum c-reactive protein, episodic

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:normal parathyroid hormone (female)

•

en:normal number of t and b lymphocytes

•

en:unresponsive to acth stimulation

•

en:normal serum bile acids

•

en:saccharopine dehydrogenase deficiency

•

en:increased igg level

•

en:undetectable dopamine beta-hydroxylase (dbh) protein in plasma, csf, or sympathetic fibers

•

en:triglyceride decreased

•

en:thrombocytopenia (33-120 x 10(9)/l)

•

en:tay-sachs disease

•

en:structural abnormalities seen on chromosome analysis

•

en:skewed x-inactivation in females

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:serum transaminase increased

•

en:serum ferritin normal

•

en:serum creatinine raised

•

en:serum c-peptide and glucagon levels measurable

•

en:reduced platelet aggregation response to adp, collagen, epinephrine

•

en:normal serum liver enzymes

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:pseudohypertriglyceridemia in adult form

•

en:protein c decreased

•

en:premature centromere division (pcd) of the x chromosome observed in cultured lymphocytes during metaphase

•

en:polycythemia

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:plasma triglycerides increased

•

en:peroxisome deficiency

•

en:no evidence of intrauterine infection in mother or newborn

•

en:normal to elevated total plasma carnitine

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal serum phosphorus

•

en:increased plasma long-chain acylcarnitines

•

en:absent/reduced protein s and normal total proteins in heterozygote

•

en:increased csf lactate during acute episodes

•

en:decreased circulating cortisol level

•

en:decreased secretion of igf1 in response to gh administration

•

en:decreased plasma zinc levels

•

en:decreased plasma total cholesterol

•

en:decreased plasma gonadotrophin

•

en:decreased or absent histidase activity

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased mitochondrial complex v assembly

•

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

•

en:decreased long-chain fatty acid oxidation

•

en:decreased levels of serum vitamin b12

•

en:decreased expression of gpi-anchored proteins on blood cells

•

en:decreased csf folate

•

en:decreased aminoacylase-1 activity

•

en:decreased serum factor b (atypical hus)

•

en:creatine decreased

•

en:characteristic spheroids can be found in peripheral tissue, such as skin and conjunctiva

•

en:cell studies show increased dna breakage

•

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

•

en:associated with serum anti-phospholipid antibodies in about 50% of patients

•

en:antithrombin iii deficiency

•

en:amylo-1,6-glucosidase deficiency

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

en:acute-phase reactants during fever

•

en:absent alkyl-dhap synthase activity

•

en:urinary calcium-creatinine ratio < 0.01:1 supports diagnosis

•

en:abnormal liver function tests (less common)

•

en:decreased serum ceruloplasmin

•

en:decreased transferrin increased serum iron

•

en:increased csf and plasma ghb

•

en:factor viii deficiency

•

en:increased creatine kinase, mild to moderate

•

en:impairment of urinary concentration

•

en:immediate (type i) skin test reactivity

•

en:i-cell disease

•

en:hypoglycosylation of plasma glycoproteins

•

en:hypocalciuria or normocalciuria

•

en:hypertriglyceridemia (rare)

•

en:high urinary copper

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:green serum

•

en:glomerular filtration rate decreased

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:elevated urinary mevalonic acid

•

en:decreased t cells

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:elevated sweat chloride

•

en:elevated plasma propionylcarnitine

•

en:elevated mchc

•

en:elevated hcg (choriocarcinoma)

•

en:elevated ferritin l subunit

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:elevated crp

•

en:elevated alpha-ketoglutarate (in most patients)

•

en:electron microscopy of patient respiratory cells shows defects in inner and outer dynein arms

•

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

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:uremia

•

en:csf pleocytosis, particularly of lymphocytes

•

en:urinary excretion of cationic amino acids (lysine, arginine, ornithine)

•

en:increased urine oligosaccharides

•

en:mild hyperammonemia

•

en:mild elevation of triglycerides

•

en:microdeletion 22q11.2

•

en:median mean platelet volume (mpv) 18fl

•

en:lysine-ketoglutarate reductase deficiency

•

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

•

en:low serum alpha-fetoprotein (recessive)

•

en:low or normal serum erythropoietin

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low ldl cholesterol

•

en:ketoacidosis

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary tricarboxylic acid intermediates

•

en:neonatal hyperbilirubinemia

•

en:increased urinary taurine

•

en:increased urinary excretion of camp

•

en:increased urinary and serum glycine

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased serum methionine (reported in 2 cases)

•

en:increased serum iduronate sulfatase

•

en:increased serum creatine kinase (1 family)

•

en:increased serum citrulline (group b)

•

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

•

en:increased serum alkaline phosphatase (in some patients)

•

en:increased plasma progastrin

•

en:increased lactate in spinal fluid

•

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

•

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

•

en:increased beta-alanine (in 1 of 2 patients)

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:very long-chain fatty acids may be normal or increased

•

en:ultra large von willebrand factor (ul-vwf) in plasma

•

en:t cells may be increased or decreased

•

en:thyroid hormone organification defect

•

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

•

en:serum thyroxine may be decreased or normal

•

en:serum prolactin increased

•

en:serum creatine kinase 20-70 times normal

•

en:serum cholesterol low or normal

•

en:serum c-reactive protein may be increased

•

en:reticulocytosis

•

en:reduced iga

•

en:protein total decreased

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:proteinuria in those with cystic kidneys

•

en:prolinuria

•

en:variable hypoglycemia

•

en:positive antinuclear antibody test

•

en:platelet glycoprotein iiia deficiency

•

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

•

en:pipecolic acid accumulation.

•

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

•

en:no hyperuricemia

•

en:no c8 antigen detected

•

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

•

en:normal serum cobalamin (vitamin b12)

•

en:increased csf pyruvic acid

•

en:positive urinary bratton-marshall test

•

en:incomplete n-glycosylation of cellular proteins

•

en:cytoplasmic lamellar concentric inclusions

•

en:decreased mitochondrial nadp(h)

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased levels of the e2 subunit protein

•

en:decreased fumarate hydratase activity

•

en:decreased factor xi

•

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

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:decreased b cells

•

en:decreased agt activity

•

en:decreased activity of triosephosphate isomerase

•

en:decreased activity of cytochrome c oxidase in muscle and fibroblasts

•

en:decreased activity of 3-methylcrotonyl-coa carboxylase (less than 2%)

•

en:chromosomal instability

•

en:decreased plasma esterified cholesterol

•

en:bicarbonaturia

•

en:aminoaciduria (1 patient)

•

en:aminoaciduria, intermittent

•

en:acute hyperammonemia

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:absence of cpt ii protein

•

en:abnormal transaminases (1 patient)

•

en:abnormal serum protein electrophoresis (elevated alpha-2 band)

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:2-aminoadipic aciduria

•

en:very low igm

•

en:igg, decreased

•

en:decreased or normal serum factor i

•

en:affected mother has reduced zinc levels in breast milk (may be up to 40% less than normal breast milk)

•

en:decreased plasma triglycerides

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:hyponatremic dehydration, rarely

•

en:decreased reversible oxygen-binding capacity (e.g. hb l (bombay) 141800.9999)

•

en:hypocalciuria

•

en:hypocalcemia (64% of adults)

•

en:hypoalphalipoproteinemia

•

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

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:green urine

•

en:glycoamino aciduria

•

en:galactosuria

•

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

•

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

•

en:homozygous 122kb deletion 11p15-p14

•

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

•

en:deficiency or absence of p91-phox protein

•

en:decreased ubiquinone-10

•

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

•

en:elevated urinary 3-methylglutarate

•

en:decreased urinary calcium and phosphate excretion

•

en:decreased very long-chain acyl-coa dehydrogenase protein and activity

•

en:defective t-cell proliferative responses (in some patients)

•

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

•

en:elevated branched-chain amino acids (in most patients)

•

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

•

en:elevated dihydrobiopterin in csf

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:elevated pyruvate (in most patients)

•

en:increased 18-ohb to aldosterone ratio

•

en:increased intracellular fmrp mrna

•

en:increased 11-deoxycortisol

•

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

•

en:increased cholesterol

•

en:increased csf, plasma, and urinary l-dopa

•

en:increased erythrocyte sedimentation rate, episodic

•

en:increased il1b increased soluble il2r

•

en:increased serum glycerol

•

en:increased level of globotriaosylceramide (gb3) in plasma and urinary sediment

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased serum alanine

•

en:increased serum bile acids

•

en:increased serum c-reactive protein (crp, 123260)

•

en:increased serum thyrotropin

•

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

•

en:increased tissue levels of triglycerides

•

en:hyponatremia

•

en:increased transferrin saturation (>60%)

•

en:impaired o-glycosylation

•

en:fibrinogen decreased

•

en:hypofibrinogenemia

•

en:globulin gamma serum plasma increased result

•

en:increased urinary 2-methylbutyrylglycine

•

en:elevated plasma campesterol

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:elevated serum levels of follicle stimulating hormone (fsh)

•

en:elevated serum transaminase levels

•

en:enlarged cytoplasmic vacuoles in bone, muscle, and brain tissue

•

en:fasting hypoglycemia (early in disease course)

•

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

•

en:greatly increased dopamine in plasma, urine, csf (approximately 10-fold increase)

•

en:hypocholesterolemia

•

en:hb h erythrocyte inclusions

•

en:hepatic argininosuccinate synthetase deficiency

•

en:hereditary fructose intolerance

•

en:hla-dqw6 association (dqb1*0602)

•

en:hyperglutaminemia

•

en:hyperglycolic aciduria

•

en:hyperkalemia

•

en:hyperlactemia

•

en:increased urinary 2-ketoglutarate (variable)

•

en:reduced serum uric acid

•

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

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:prolonged prothrombin time (pt)

•

en:reduced oxygen affinity (e.g. hb thionville 141800.0168)

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:respiratory epithelial show lack of ciliary movement or abnormal movement

•

en:serum bilirubin increased

•

en:serum phosphate concentration below normal

•

en:serum triglycerides normal

•

en:phosphaturia

•

en:shortened telomeres (in 1 of 2 patients)

•

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

•

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

•

en:transient hyperlipidemia

•

en:translocation of chromosomes 9 and 13

•

en:undetectable plasma dbh activity

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:urinary excretion of retinol-binding proteins (rbp) and vitamin d-binding proteins (dbp)

•

en:platelet antibody positive

•

en:patient cells show increased chromosome breakage

•

en:increased urinary hydroxyisovaleric acid

•

en:low serum levels of ketone bodies

•

en:increased urinary urate

•

en:iron overload (in some patients)

•

en:ketonuria (1 patient)

•

en:liver transaminases normal to slightly increased

•

en:low or absent iga levels

•

en:low plasma free and total carnitine

•

en:low serum calcium

•

en:low serum igg and iga

•

en:neutrophilia, both basal and during infections

•

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

•

en:normal baseline cortisol

•

en:normal concentration of parathyroid hormone

•

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

•

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

•

en:normal serum lipoprotein levels

•

en:normal serum phytanic and pristanic acid

•

en:normal urinary pterins

•

en:no dicarboxylic aciduria

•

en:elevated plasma alloisoleucine

◀

Génériques

[F] [H]

›

en:deficiency

•

en:deficiency of

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846731 • caches: c1=16 c2=1633 c3=2

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