Diko : en:incresased urinary pyruvate

en:incresased urinary pyruvate

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1839427

Associations d'idées

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1000

en:thyroid dyshormonogenesis 5

•

en:abnormal liver function tests (in some patients)

•

en:marked hypobetalipoproteinemia

•

en:2,8-dihydroxyadenine (dha) urinary stones

•

en:glycogen storage disease type v

•

en:hypernatremia

•

en:increased csf threonine

•

en:low absolute lymphocyte count

•

en:low alkaline phosphatase

•

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

•

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

•

en:absent igg2 subclass

•

en:decreased apoa-i and apoa-ii

•

en:decreased asparagine levels (in some patients)

•

en:decreased numbers of t regulatory cells

•

en:decreased switched memory b cells

•

en:deficiency of creatine phosphate in brain

•

en:immunoglobulin a decreased

•

en:increased interleukin 10

•

en:increased serum pyruvate, mild

•

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

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:abnormal phospholipid profile

•

en:prolidase deficiency

•

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

•

en:normal isoelectric focusing of serum transferrin

•

en:bile contains cholesterol crystals

•

en:increased ige level

•

en:ethylmalonic aciduria

•

en:epstein-barr viraemia

•

en:decreased activity of galactocerebrosidase

•

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

•

en:aldosterone level increased above normal

•

en:low plasma citrulline

•

en:blood pyruvic acid increased

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

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

•

en:increased hepatic parenchymal cell stainable iron

•

en:hypercholesterolemia

•

en:homocysteinemia

•

en:low-to-normal platelet count

•

en:normal exocrine pancreatic function

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:elevated testosterone

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:diagnosis by exposing muscle biopsy to caffeine and/or halothane

•

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

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:abnormal n-glycosylation of transferrin

•

en:deficiency of glycoprotein (gp)iib-iiia complex

•

en:high sweat sodium and chloride

•

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

•

en:increased plasma pipecolic acid

•

en:increased tissue levels of triglycerides

•

en:increased urinary s-sulfocysteine

•

en:platelet function test normal

•

en:tenascin x deficiency (serum and fibroblasts)

•

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

•

en:deletion (78kb to 1mb) of chromosome 8q24.3 including the scrib (607733) and puf60 (604819) genes

•

en:defective dna repair

•

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

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:low serum acth

•

en:lysyl hydroxylase deficiency

•

en:normal urinary pterins

•

en:prolonged prothrombin time (pt)

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:urine odor, maple syrup

•

en:very low igg

•

en:heparan sulfate excretion in urine

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:irregularly shaped sperm heads

•

en:increased serum aryl-sulfatase a (10-20x)

•

en:hypertriglyceridemia (in some patients)

•

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

•

en:elevated plasma stigmasterol

•

en:elevated plasma estrogen

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

en:blood glucose normal

•

en:antithrombin iii deficiency

•

en:normal igm levels

•

en:no histochemical evidence of mitochondrial myopathy.

•

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

•

en:increased serum osteocalcin

•

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

•

en:translocation of chromosomes 9 and 13

•

en:low to normal serum calcium

•

en:serum mitochondrial autoantibodies

•

en:hypernatriuria

•

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

•

en:decreased serum thiamine pyrophosphate

•

en:amylo(1,4 - 1,6) transglucosidase deficiency (brancher enzyme)

•

en:transferase deficiency galactosemia

•

en:protein c decreased

•

en:abnormal liver function test

•

en:bilirubin conjugated increased

•

en:elevated alkaline phosphatase (in one patient)

•

en:high m-component

•

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

•

en:increased serum pyruvate in acute stage

•

en:lower total cholesterol

•

en:low csf creatinine

•

en:plasma aldosterone normal

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

en:mildly decreased phosphaturic response to pth administration has been reported in some cases

•

en:absence of cpt ii protein

•

en:telomere shortening

•

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

•

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

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:increased urinary 3-oh-propionic acid

•

en:increased soluble il2 receptor

•

en:glucosuria, mild, intermittent

•

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

•

en:decreased activity of nadph oxidase

•

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

•

en:aberrant gamma-interferon-mediated inflammation

•

en:aneuploidy of the x chromosome

•

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

•

en:elevated fecal levels of protoporphyrin and coproporphyrin at all times

•

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

•

en:increased plasma lactate

•

en:serum osmolality decreased

•

en:subtelomeric deletion of chromosome 16p

•

en:urinary excretion of sialylated oligosaccharides

•

en:decreased plasma total and free carnitine

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

en:high urinary copper

•

en:decreased neopterin and biopterin in urine

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:hypermagnesemia

•

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

•

en:high plasma citrulline (100-300 micromolar)

•

en:hemoglobin decreased

•

en:elevated plasma insulin

•

en:decreased thrombospondin

•

en:severely impaired ciliary motility

•

en:cd4+/cd8+ ratio is reversed

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

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

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:hepatic argininosuccinate synthetase deficiency

•

en:hla-dqw6 association (dqb1*0602)

•

en:increased nasal-potential difference (1 of 3 patients)

•

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

•

en:bicarbonaturia

•

en:decreased serum 18-ohb

•

en:elevated sweat chloride

•

en:impairment of urinary concentration

•

en:decreased scad activity

•

en:increased csf taurine

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:lysine-ketoglutarate reductase deficiency

•

en:mildly increased serum lactate

•

en:increased csf interferon

•

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

•

en:increased serum unconjugated bilirubin

•

en:increased serum alanine

•

en:aprt deficiency measured in erythrocyte lysate

•

en:hypocholesterolemia

•

en:hypercholesterolemia (reported in 2 patients)

•

en:excess protoporphyrin in bile and feces but not in urine

•

en:blood urea nitrogen increased

•

en:low serum cortisol

•

en:increased urinary adenosine

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:nonketotic hypoglycemia

•

en:high serum osmolality

•

en:plasmalogen deficiency

•

en:mild elevation of cholesterol

•

en:low or absent follicle stimulating hormone (fsh)

•

en:hyperphosphatemia, transient

•

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

•

en:elevated serum levels of adenosine

•

en:elevated 8-dehydrocholesterol

•

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

•

en:decrease or absence of cathepsin d (ctsd) protein immunostaining

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:widespread interstitial fibrosis (visceral organs)

•

en:low serum levels of branched-chain amino acids

•

en:ketonuria, acute

•

en:low-to-normal csf lactate

•

en:low fasting glucose (in some patients)

•

en:low plasma hdl

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:low urinary orotic acid

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:mild hypertriglyceridemia

•

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

•

en:increased ferritin

•

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

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:increased serum plasminogen activator inhibitor-1 (pai1, 173360)

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary taurine

•

en:increased urinary succinic acid

•

en:increased total bilirubin may occur

•

en:increased susceptibility to ebv infection

•

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

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum glycerol

•

en:increased plasma proinsulin

•

en:increased plasma phospholipids

•

en:increased neopterin in urine and csf

•

en:increased il1b increased soluble il2r

•

en:nadh-cytochrome b(5) reductase deficiency

•

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

•

en:reduced erythrocyte gs activity

•

en:normal arterial oxygen saturation

•

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

•

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

•

en:urinary prostaglandin e

•

en:tyrosinemia (transient, resolves in infancy)

•

en:thyroid peroxidase defect

•

en:serum prolactin decreased

•

en:serum phosphate normal

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:serum complement decreased

•

en:rhabdomyolysis in response to alcohol

•

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

•

en:reduced platelet glycoprotein ib complex

•

en:reduced ige levels

•

en:reduced ferrochelatase activity

•

en:raised tsh level

•

en:normal cd8+/cd4+ ratio

•

en:predominance of the d-stereoisomer

•

en:plasma catecholamines decreased

•

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

•

en:p5c levels increased in urine

•

en:no ketosis

•

en:normal transferrin saturation

•

en:normal to prolonged bleeding time

•

en:normal to elevated total plasma carnitine

•

en:normal number of t and b lymphocytes

•

en:normal leukocyte and platelet counts

•

en:normal g(s)-alpha levels (139320)

•

en:normal extrarenal responses to ddavp administration

•

en:normal complex ii activity

•

en:increased csf and plasma gaba

•

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

•

en:increased creatine kinase (ck)

•

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

•

en:decreased serum 25-hydroxyvitamin d

•

en:decreased secretion of igf1 in response to gh administration

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:decreased nasal nitric oxide (in some patients)

•

en:decreased mitochondrial complex v assembly

•

en:decreased mitochondrial complex iii activity in muscle

•

en:decreased long-chain fatty acid oxidation

•

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

•

en:decreased galactokinase activity

•

en:decreased fibroblast iduronate sulfatase

•

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

•

en:decreased activity of tyrosine hydroxylase

•

en:decreased activity of phosphoglycerate kinase 1

•

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

•

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

•

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

•

en:coarse metachromatic granules in white blood cells

•

en:chromosome 11q23.3 deletion

•

en:anti-ds dna antibody

•

en:amylo-1,6-glucosidase deficiency

•

en:alkaline phosphatase serum increased

•

en:alkaline phosphatase decreased

•

en:accumulation of guanidinoacetate in brain

•

en:absence of beta-ureidopropionase activity and protein in liver biopsy

•

en:abnormal urinary compounds

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

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

•

en:decreased serum igm

•

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

•

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

•

en:heparin cofactor ii deficiency (disorder)

•

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

•

en:hypoproteinemia (in 1 patient)

•

en:hypogammaglobulinemia, profound

•

en:hypocalcemia (64% of adults)

•

en:hypertriglyceridemia

•

en:hyperlysinemia

•

en:hyperkalemia

•

en:hypercholesterolemia (disorder)

•

en:hypercalciuria (in childhood)

•

en:high serum inosine levels

•

en:high ebv viral load

•

en:hepatic gamma-cystathionase deficiency

•

en:hematuria, gross and microscopic

•

en:decreased tissue total and free carnitine

•

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:elevated serum parathyroid hormone (pth)

•

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

•

en:elevated liver enzymes

•

en:elevated leukotriene e(4)

•

en:elevated gamma-glutamyltransferase

•

en:elevated csf glycine

•

en:elevated creatine kinase (in some patients)

•

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

•

en:dolichyl-p-glc:man(9)glcnac(2)-pp-dolichyl glucosyltransferase deficiency

•

en:deficiency of fat-soluble vitamins

•

en:defect in oxidative phosphorylation

•

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

•

en:decreased plasma apolipoprotein c-ii

•

en:absent/reduced free proteins and absent total protein s

•

en:increase urinary excretion of lysine, arginine, and ornithine

•

en:mitochondrial complex i deficiency in muscle

•

en:mild-moderate prolonged bleeding time

•

en:microdeletion 22q11.2

•

en:methemoglobin concentration 12 to 19%

•

en:low to low-normal magnesium

•

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

•

en:low level of c4 and c2

•

en:low csf creatine

•

en:lack of ciliary motility

•

en:ketosis

•

en:interstitial or terminal deletion of 18q

•

en:inner and outer dynein arm defects, variable

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:neutropenia

•

en:increased urinary excretion of gamma-aminobutyric acid (gaba)

•

en:increased urinary excretion of coproporphyrin i

•

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

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased serum vitamin b12

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased serum lysine (group b)

•

en:increased serum creatine kinase, mild

•

en:increased serum beta-hexosaminidase (10-20x)

•

en:increased plasma pristanic acid

•

en:increased plasma phytanic acid

•

en:increased il6, episodic

•

en:increased il-6

•

en:molybdenum cofactor deficiency

•

en:normal collagen type i studies

•

en:increased csf histidine

•

en:serum creatine kinase may be normal or increased

•

en:pyruvate dehydrogenase e1 alpha deficiency

•

en:absent dystrophin on muscle biopsy

•

en:vitamin k deficiency

•

en:very low leptin level

•

en:vacuolated lymphocytes

•

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

•

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

•

en:upregulation of alpha-interferon-stimulated genes

•

en:transferrin saturation increased

•

en:shortened telomeres (1 patient)

•

en:severely decreased palmitate oxidation

•

en:serum testosterone level normal

•

en:serum and csf lactate may be increased

•

en:normal eosinophil peroxidase activity

•

en:serum aldosterone elevated

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:secondary decreases in complex i and iv activity

•

en:reduced serum uric acid

•

en:pms have increased metabolic ratio of unchanged drug-to-metabolite in urine

•

en:plasma ammonia not elevated

•

en:pipecolic acid accumulation.

•

en:paraproteinemia

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:no c8 antigen detected

•

en:normal tyrosinase

•

en:normal serum biotin concentration

•

en:normal renin level

•

en:increased csf lactate during acute episodes

•

en:normal phytanic acid

•

en:increased creatinine

•

en:decreased or absent glycogen branching enzyme activity

•

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

•

en:electrolyte disturbances from intractable diarrhea

•

en:distal xp22.3 segmental monosomy

•

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

•

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

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:defect in double-stranded dna repair

•

en:decreased triiodothyronine level

•

en:decreased tissue and serum alkaline phosphatase

•

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

•

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

•

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

•

en:decreased fumarate hydratase activity

•

en:elevated circulating parathyroid hormone (pth) level

•

en:decreased circulating renin level

•

en:decreased circulating aldosterone level

•

en:decreased cholesterol (less common)

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:decreased-absent intestinal mucosa lactase activity

•

en:cytogenetic deletion of chromosome 19q13

•

en:cortisol does not decrease on dexamethasone suppression test

•

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

•

en:cd4+/cd8+ ratio often reversed

•

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

•

en:atrial abnormalities on electrocardiogram

•

en:increased ck-mb

•

en:alpha 1 foetoprotein amniotic fluid increased

•

en:elevated androstenedione

•

en:decreased phosphoglycerate mutase 1 (pgam2) activity (2 to 6% of normal values)

•

en:elevated d-2-hydroxyglutaric acid (urine, plasma, csf)

•

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

•

en:increased ammonia with exercise

•

en:increased alpha-fetoprotein (1 patient)

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:increased 18-hydroxycortisol

•

en:hypoxemia

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hyponatremia in infancy

•

en:hypokalemia occurs during paralytic attacks

•

en:hypocalcemia (male)

•

en:hypercalciuria (in some patients)

•

en:high sweat electrolyte

•

en:high ornithine

•

en:hepatic argininosuccinase deficiency

•

en:hyperkalemia during attacks

•

en:glycogen storage disease type vi

•

en:erythroid colony-forming units show spontaneous growth in the absence of epo

•

en:elevated plasma and urine succinylacetone

•

en:elevated hcg (choriocarcinoma)

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated serum lactate

•

en:elevated serum transferrin saturation

•

en:elevated urinary 3-methylglutaconate

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:exercise-induced myoglobinuria in adults

•

en:farber lipogranulomatosis

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:glycogen accumulation in both liver and muscle

•

en:indirect bilirubin increased

•

en:increased urinary excretion of l-xylulose

•

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

•

en:increased urinary glycerol

•

en:increased urinary propionyl glycine

•

en:increased urinary sulfatide excretion

•

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

•

en:intracellular accumulation of unesterified cholesterol

•

en:low or absent igm levels

•

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

•

en:iron deficiency

•

en:low maximal oxygen uptake on exercise testing

•

en:lack of excessive parenchymal iron storage

•

en:increased urinary dicarboxylic acid, transient

•

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

•

en:increased 18-ohb to aldosterone ratio

•

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

•

en:increased levels of carcinoembryonic antigen

•

en:impaired platelet aggregation

•

en:low procollagen 1 c-peptide (in some patients)

•

en:incomplete n-glycosylation of cellular proteins

•

en:increased 11-deoxycortisol

•

en:increased fractional excretion of urate (greater than 50%)

•

en:increased igm level

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased serum 1,25-dihydroxyvitamin d

•

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

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased serum citrulline (group b)

•

en:increased serum thyrotropin

•

en:increased sodium-potassium pump activity

•

en:low or normal serum igm

•

en:submucosal macrophages filled with sphingolipids

•

en:low urinary cyclic amp response to pth administration

•

en:shortened telomeres (classic feature, nola3 patient)

•

en:rheumatoid factor positive (finding)

•

en:secondary decrease of plasma free carnitine

•

en:serum creatine kinase may be increased

•

en:serum iron low (finding)

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

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

•

en:thyroid hormones increased

•

en:prolonged partial thromboplastin time

•

en:transient neonatal hypoglycemia (2p21del)

•

en:tsh decreased

•

en:two alternative chimeric oncogene products called p210(bcr-abl) and p185(bcr-abl)

•

en:tyrosine loss

•

en:unresponsive to acth stimulation

•

en:immunoglobulin antibodies present

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:pentagastrin stimulation test

•

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

•

en:normal aldosterone

•

en:metabolic acidosis

•

en:microdeletion of chromosome 11q13 (43-490kb)

•

en:mild eosinophilia may occur

•

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

•

en:mutant mtdna threonine transfer rna gene (mttt, 590090) of questionable etiology

•

en:neutropenia (in 1 patient)

•

en:normal blood lactate

•

en:parathyroid hormone level increased

•

en:normal liver histology

•

en:normal maltase, isomaltase, and sucrase activity

•

en:normal or mildly decreased arylsulfatase a activity

•

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

•

en:normal serum phosphorus

•

en:normal serum plasmalogen

•

en:no evidence of intrauterine infection in mother or newborn

•

en:impaired creatine uptake in fibroblasts

•

en:carnitine palmitoyltransferase i deficiency (fibroblast, liver, leukocytes)

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:decreased number of igf1 receptors (igf1r, 147370) on cell surface

•

en:decreased grhpr activity

•

en:decreased hepatic gaba transaminase activity

•

en:decreased ldl cholesterol

•

en:decreased methylcobalamin (mecbl)

•

en:decreased monoamine oxidase a activity

•

en:decreased nk cells (in some patients)

•

en:decreased or absent ciliary motility

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased or normal plasma insulin

•

en:decreased phgdh activity (fibroblasts)

•

en:decreased plasma serine

•

en:decreased serum and muscle coenzyme q

•

en:decreased serum cobalamin

•

en:decreased serum haptoglobin (in some patients)

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:decreased telomere length in lymphocytes

•

en:aminoaciduria (rare)

•

en:uroporphyrin i and coproporphyrin i are found in plasma, red blood cells, urine, and feces

•

en:4-hydroxyphenyllactic aciduria

•

en:abnormal acylcarnitine profiles

•

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

•

en:abnormal serum liver enzyme levels

•

en:absent platelet agglutination in presence of ristocetin

•

en:anaphase loss or nondisjunction with trisomies, tetrasomies, monosomies

•

en:creatine kinase normal between episodes

•

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

•

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

•

en:at least 2 complementation groups

•

en:calcium normal

•

en:cells show increased sensitivity to ionizing radiation

•

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

•

en:coombs positive hemolytic anemia

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:defective mitochondrial respiratory enzyme activity

•

en:hypoglycosylated serum transferrin

•

en:homocysteinemia (in some patients)

•

en:generalized aminoaciduria

•

en:globulin gamma serum plasma increased result

•

en:glucose-6-phosphate deficiency

•

en:glycoamino aciduria

•

en:glycosuria (less common)

•

en:heteroplasmic partial duplication of mtdna

•

en:hyperammonemia, episodic

•

en:fibrinogen decreased

•

en:hyperglycinemia (1 patient)

•

en:hyperglycolic aciduria

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:hyperornithinemia

•

en:hypoalbuminemia

•

en:hypofibrinogenemia

•

en:fumarase deficiency

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

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

•

en:elevated androstenedione and testosterone

•

en:deficiency or absence of p91-phox protein

•

en:deficient fibroblast aicar-tf activity

•

en:delayed plasma clearance of unconjugated bromsulphthalein, an anionic diagnostic dye

•

en:disorganized growth plate cartilage

•

en:electrocardiogram abnormal

•

en:elevated alkaline phosphatase of bone origin

•

en:elevated dihydrobiopterin in csf

•

en:elevated serum transaminase levels

•

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

•

en:elevated fasting triglycerides

•

en:elevated liver transaminases

•

en:elevated plasma galactose (galactosemia)

•

en:elevated plasma levels of lp(a)

•

en:elevated sed rate

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:urocanase deficiency

•

en:hyperuricuria

•

en:3-methylglutaric aciduria

•

en:increased urinary prostaglandin e2

•

en:increased serum lactate (patient a)

•

en:increased serum methionine

•

en:increased serum s-adenosylmethionine

•

en:increased triglycerides (less common)

•

en:increased urinary 2-hydroxybutyrate

•

en:increased urinary lactate

•

en:increased urinary uracil

•

en:increased serum insulin-like growth factor-1 (igf1, 147740)

•

en:increased very-long chain fatty acids

•

en:indirect hyperbilirubinemia

•

en:iodide organification defect

•

en:ketonuria

•

en:liver transaminases normal to slightly increased

•

en:low serum levels of ketone bodies

•

en:increased serum lactate

•

en:increased serum glutamine

•

en:markedly decreased or absent serum 1,25-dihydroxyvitamin d3

•

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

•

en:hypoproteinemia

•

en:increased biopterin in urine and csf

•

en:increased csf protein during acute illness

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:increased disialo- and asialotransferrin

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:increased iga level

•

en:increased serum direct bilirubin

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

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

•

en:increased serum alanine (1 patient)

•

en:increased serum and csf lactate

•

en:increased serum c26-bile-acid intermediates

•

en:increased serum creatine kinase during episodes

•

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

•

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

•

en:hypomethioninemia

•

en:serum prolactin increased

•

en:reticulocytosis

•

en:serum calcium elevated

•

en:serum carnitine deficiency

•

en:serum cholesterol raised

•

en:serum lactate is usually normal

•

en:serum phosphate concentration below normal

•

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

•

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

•

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

•

en:thrombocytopenia, mild-moderate (60-100 x 10(9)/l)

•

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

•

en:tryptophanuria

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:4-hydroxyphenylpyruvic aciduria

•

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

•

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

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:normal calcium (female)

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:monomeric igm

•

en:n-glycosylation defect

•

en:near-complete absence of vldl peak on density gradient ultracentrifugation (in some patients)

•

en:normal-elevated plasma testosterone (male range)

•

en:normal activity of von willebrand factor-cleaving protease

•

en:normal or increased serum phosphate

•

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

•

en:normal or mildly reduced sphingomyelinase activity

•

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

•

en:normal sweat electrolytes

•

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

•

en:normal to mildly increased mucopolysacchariduria

•

en:no evidence of common prenatal infections

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:hypophosphatemia (less common)

•

en:reduced iga

•

en:hypoketotic hypoglycemia

•

en:decreased glycerol kinase activity

•

en:decreased axonal flare response after intradermal histamine injection

•

en:decreased beta-thromboglobulin

•

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

•

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

•

en:decreased erythrocyte plasmalogen

•

en:decreased fibroblast alpha-mannosidase

•

en:decreased intracellular fmr protein

•

en:decreased activity of ppt1

•

en:decreased mucosal alkaline phosphatase

•

en:decreased natural killer cells

•

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

•

en:decreased or low-normal serum parathyroid hormone (pth)

•

en:decreased serum ferritin

•

en:decreased serum haptoglobin

•

en:decreased amount and activity of mitochondrial complexes i and iv

•

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

•

en:decreased serum vitamin a

•

en:aminoaciduria (less common)

•

en:abnormal liver enzymes, intermittent

•

en:hypogammaglobulinemia

•

en:abnormal secretin test

•

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

•

en:absent or severely reduced levels of serum immunoglobulins

•

en:acute hyperammonemia

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

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

•

en:androgens increased

•

en:argininosuccinic aciduria

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:complex organic aciduria

•

en:cystathionine beta-synthase deficiency disease

•

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

•

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

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:decreased testosterone level

•

en:hypercholesterolemia (10%)

•

en:glyoxalase deficiency

•

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

•

en:hematuria, macroscopic and microscopic

•

en:high urinary orotic acid

•

en:homocystinemia

•

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

•

en:hypermethioninemia, progressive

•

en:glutaric aciduria

•

en:hyperoxalaemia

•

en:hyperprolinemia (5-10 times normal)

•

en:hypertriglyceridemia, transient

•

en:hypocalcemia, transient

•

en:decreased tetrasialo-transferrin

•

en:hypoalbuminemia (in 83%)

•

en:glycosuria

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:glcnac-transferase ii deficiency in fibroblast and mononuclear cells

•

en:dyskinetic ciliary motility

•

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

•

en:generalized amyloid deposition

•

en:deficiency of serum properdin p factor

•

en:deficiency or absence of p22-phox (608508) protein

•

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

•

en:decreased transcobalamin i in saliva, serum, gastric juice, and cerebrospinal fluid

•

en:dicarboxylic aciduria

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:decreased ubiquinone-10

•

en:elevated liver function tests

•

en:elevated plasma luteinizing hormone (lh)

•

en:folate-dependent fragile site at xq28

•

en:elevated white blood cell cystine

•

en:fibroblasts attach poorly

•

en:elevated free carnitine

•

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

•

en:increased urinary 2-butanone

•

en:increased urinary 2-oxoglutaric acid

•

en:increased urinary 7-biopterin (primapterin)

•

en:loss of heterozygosity in giant cell astrocytomas, angiomyolipomas, rhabdomyomas

•

en:low copper and ceruloplasmin

•

en:increased urinary excretion of cystine

•

en:ketonemia

•

en:lactate pyruvate ratio normal

•

en:increased transferrin saturation (>60%)

•

en:increased urinary o-linked sialopeptides

•

en:increased serum creatine kinase (1 family)

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum lipoproteins

•

en:increased serum lactate in acute stage

•

en:increased serum ferritin (in some patients)

•

en:increased serum deoxyuridine

•

en:increased serum creatine kinase (patient a)

•

en:increased serum butyryl carnitine

•

en:increased serum bile acids

•

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

•

en:increased serum, urinary, and csf lysine

•

en:low or absent thyrotropin (tsh)

•

en:increased prevalence among the native american lumbee indians

•

en:increased plasma branched-chain fatty acids

•

en:low or absent prolactin (pl)

•

en:partial deficiency of factor xiii(c)

•

en:low or normal serum calcium

•

en:no elevation of free fatty acids

•

en:serum ferritin normal

•

en:increased histidine in blood, urine, and csf

•

en:serum cortisol elevated

•

en:serum chloride level decreased (finding)

•

en:serum calcitonin, increased

•

en:pyruvic acidemia

•

en:proteinuria (type ii, congenital)

•

en:pipecolic acidemia

•

en:phytanic acid increased

•

en:phosphorylase kinase normal in muscle

•

en:phospholipid antibody positive

•

en:patient cells show a defect in transcription-coupled and global genome nucleotide excision repair

•

en:no chromosome breakage

•

en:low total serum protein

•

en:no cartilage staining with toluidine blue

•

en:normal to increased plasma threonine

•

en:normal total urinary coproporphyrin

•

en:normal serum complement levels

•

en:normal red cell counts

•

en:normal or decreased serum potassium

•

en:normal endocrinologic studies (growth hormone, somatomedin c, thyroid function)

•

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

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

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

•

en:microscopic hematuria

•

en:low to absent high density lipoprotein (hdl) (detroit 107680.0011)

•

en:increased il-8

•

en:decreased homovanillic acid (hva) and 5-hydroxyindoleacetic acid (5hiaa) in csf

•

en:increased csf pyruvic acid

•

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

•

en:decreased palmitate oxidation

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:decreased metabolism of thiopurine drugs

•

en:decreased glutamine in bodily fluids

•

en:decreased copper, iron, zinc

•

en:decreased ciliary motility

•

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

•

en:decreased blood levels of cationic amino acids

•

en:decreased adiponectin

•

en:decreased activity of mitochondrial complex ii (succinate dehydrogenase)

•

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

•

en:d-2-hydroxyglutaric aciduria

•

en:cystathioninuria (lab finding)

•

en:decreased plasma lpl levels (in some patients)

•

en:bone marrow hypoplasia (in some patients)

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

en:ballooned neurons

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:antiribonuclear protein positive

•

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

•

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

•

en:absence of outer dynein arms

•

en:abnormal response of 25-hydroxyvitamin d-1-alpha-hydroxylase activity (609506) to hypophosphatemia

•

en:abnormal nuclear morphology

•

en:abnormal liver enzymes during illness

•

en:serum testosterone decreased

•

en:decreased plasma free carnitine

•

en:decreased plasma zinc levels

•

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

•

en:glycogen storage disease type vii

•

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

•

en:impaired o-glycosylation

•

en:impaired mitochondrial translation

•

en:hyperlactemia

•

en:hyperinsulinemia

•

en:hyperglycemias, postprandial

•

en:hyperglutaminemia

•

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

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:high sister chromatid exchange (sce) rate

•

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

•

en:hematuria (less common)

•

en:galactocerebroside beta-galactosidase deficiency in serum, leukocytes, and fibroblasts

•

en:decreased serum c3 (atypical hus)

•

en:elevated urinary pge(2) levels

•

en:elevated urinary 3-methylglutarate

•

en:elevated serum iron and iron binding capacity

•

en:elevated fibroblast free sialic acid

•

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

•

en:dyslipidemia

•

en:defective bile acid metabolism

•

en:decreased urinary excretion of uromodulin

•

en:decreased transferrin increased serum iron

•

en:decreased tetrasialotransferrin levels

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:decreased serum factor b (atypical hus)

•

en:serum iron raised

•

en:hypercholesterolemia (in 75%)

•

en:sweat test normal

•

en:increased urinary tiglylglycine

•

en:low plasma free and total carnitine

•

en:thymic hormone decreased

•

en:low or normal serum erythropoietin

•

en:low density lipoprotein increased

•

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

•

en:low-molecular-weight proteinuria

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:karyomegaly may be found in other visceral organs

•

en:isovaleric acidemia

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increased urinary sulfite

•

en:low serum uric acid

•

en:increased urinary potassium

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased urinary citric acid cycle intermediates

•

en:increased urinary 2-methylbutyryl glycine

•

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

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum total cholesterol

•

en:increased serum lactate hydrogenase

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased serum growth hormone levels

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:low serum alpha-fetoprotein (recessive)

•

en:mean platelet volume (mpv) 12.6fl

•

en:increased serum acyl carnitines

•

en:premature separation of centromeric heterochromatin

•

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

•

en:tyrosinemia

•

en:transient hyperlipidemia

•

en:thrombocytosis (in some patients)

•

en:t-cell deficit

•

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

•

en:serum pristanic acid increased

•

en:serum acylcarnitine returns to borderline high or normal after resolution of fever

•

en:reduced erythrocyte glucose/hexose transport

•

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

•

en:rapid high rai (radioactive iodine) uptake and turnover

•

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

•

en:positive antinuclear antibody test

•

en:metachromasia of white blood cells and fibroblasts

•

en:plasma aldosterone increased

•

en:phytanic acid accumulation

•

en:phosphorylase kinase deficiency in liver and muscle

•

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

•

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

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:normal to slightly elevated plasma cholesterol

•

en:normal serum cobalamin (vitamin b12)

•

en:normal apoa-ii levels in homozygotes

•

en:myelin basic protein measurement, spinal fluid

•

en:microsomal hmg-coa reductase decreased

•

en:microduplication of chromosome 5p13

•

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

•

en:low plasma arginine

•

en:increased plasma free cholesterol

•

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

•

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

•

en:decreased serum complement factor h

•

en:decreased serum cholesterol (in some)

•

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

•

en:decreased plasma esterified cholesterol

•

en:decreased phk activity in liver

•

en:decreased or normal serum factor i

•

en:decreased or absent apolipoprotein a-i

•

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

•

en:decreased csf hypocretin

•

en:decreased cortisol-binding globulin

•

en:decreased activity of mitochondrial complex i

•

en:dermatan and heparan sulfate excretion in urine

•

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

•

en:cutaneous anergy

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:azotemia

•

en:accumulation of cholesterol esters in various tissues

•

en:absent 7-dehydrocholesterol

•

en:abnormal urinary organic acids

•

en:abnormal transaminases (1 patient)

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abnormal liver enzymes (rare)

•

en:increased plasma and urinary pipecolic acid

•

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

•

en:delta-1-pyrroline-5-carboxylate dehydrogenase activity decreased in fibroblasts or leukocytes

•

en:urine osmolarity decreased

•

en:electron microscopy of foam cells shows lamellar inclusions

•

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

•

en:elevated alpha-ketoglutarate (in most patients)

•

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

•

en:increased lactate: pyruvate ratio (group b)

•

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

•

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

•

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

•

en:inappropriately normal to low-normal serum 1,25-dihydroxyvitamin d3

•

en:impaired response to gm-csf

•

en:igm deficiency

•

en:hypoglycemia, fasting

•

en:hyperhomocystinemia

•

en:hyperglycinuria (disorder)

•

en:increased levels of dihydroxyacetone phosphate (dhap) in tissues and red cells

•

en:hepatic ornithine transcarbamylase deficiency

•

en:elevated pth (parathyroid hormone)

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

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

•

en:elevated plasma ammonia

•

en:elevated plasma propionylcarnitine

•

en:elevated long-chain acylcarnitine species (in some patients)

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:fluorescence of red blood cells by uv microscopy

•

en:foam cells in bone marrow and renal glomeruli

•

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

•

en:elevated serum bile acids

•

en:hemizygous deletion at 4p16.3

•

en:mildly elevated creatine phosphokinase

•

en:low or undetectable c-peptide

•

en:low plasma methionine

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:mitochondrial malic enzyme reduced

•

en:mildly elevated hdl in heterozygotes

•

en:mild hyperammonemia

•

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

•

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

•

en:nephrotic syndrome

•

en:low or low-normal serum t4

•

en:increased urinary sialylglycopeptides

•

en:low or absent iga levels

•

en:lack of lysosomal inclusions in visceral organs

•

en:iron overload (in some patients)

•

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

•

en:intermittent severe hypoglycemia (in some patients)

•

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

•

en:increased urinary magnesium

•

en:increased urinary dihydropyrimidines

•

en:increased urinary cortisol/cortisone ratio

•

en:increased serum thrombopoietin may occur

•

en:increased pyruvate in serum and csf

•

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

•

en:normal levels of complement factor h, but impaired function

•

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

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:russell's viper venom assay may be prolonged or normal, depending on the genetic defect

•

en:xanthine nephrolithiasis

•

en:undetectable epinephrine (adrenaline) in plasma, urine, csf

•

en:type ii, normal antithrombin iii level but decreased activity

•

en:transient neonatal hypocalcemia (2p21del)

•

en:thyroid hormone organification defect

•

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

•

en:some fragmented or disrupted golgi

•

en:serum ferritin hyperglycosylation

•

en:serum creatine kinase may be normal

•

en:serum creatine kinase 20-70 times normal

•

en:saposin a deficiency (finding)

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:normal serum and mucosal iga

•

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

•

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

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:prolonged partial thromboplastin time (ptt)

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

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

•

en:patient cells show abnormal mitochondrial morphology

•

en:parathyroid hormone normal

•

en:pancreatic trypsinogen deficiency

•

en:no evidence of perinatal infection

•

en:no chromosomal breakage

•

en:increased plasma renin activity

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6881025 • caches: c1=20 c2=1634 c3=52

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