Diko : en:elevated serum transaminase levels

en:elevated serum transaminase levels

Catégories

Nom

Informations lexicales

Langue:anglais

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umls:C3808571

Associations d'idées

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1000

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

•

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

•

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

•

en:abnormal acylcarnitine profiles

•

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

•

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

•

en:increased serum thrombopoietin may occur

•

en:low rai (radioactive iodine) uptake

•

en:hyperchloremia (mean 111 mm)

•

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

•

en:decreased methionine synthase activity

•

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

•

en:increased histidine in blood, urine, and csf

•

en:increased urinary thymine

•

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

•

en:accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:normal serum liver enzymes

•

en:moderate to severe thrombocytopenia (30-90 x 10(9)/l)

•

en:increased serum bilirubin due to hemolysis

•

en:adenylosuccinase deficiency (finding)

•

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

•

en:decreased csf pyridoxal 5-prime-phosphate (plp)

•

en:bone marrow hypoplasia (in some patients)

•

en:orotic aciduria

•

en:no increase of muscle lactate with ischemic exercise testing

•

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

•

en:presence of pc mrna

•

en:elevated plasma insulin

•

en:serum and csf lactate may be increased

•

en:serum cortisol elevated

•

en:elevated pregnenolone

•

en:increased serum acylcarnitine during febrile crisis

•

en:urine cortisol, increased

•

en:deficient efflux of intracellular cholesterol

•

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

•

en:decreased formation of complex (tri-, tetra-antennary) n-glycans

•

en:3-methylglutaric aciduria

•

en:decreased mitochondrial complex v assembly

•

en:dehydration

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

en:homocystinuria (in some patients)

•

en:hyperglycinuria (disorder)

•

en:hypoglycorrhachia (low glucose in csf)

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:microtubule disorganization in some cilia

•

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

•

en:mitochondria dna deletion

•

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

•

en:decreased beta-thromboglobulin

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

en:decreased thrombospondin

•

en:elevated alkaline phosphatase (if more than one affected site)

•

en:increased serum and csf glycine

•

en:mildly elevated hdl in heterozygotes

•

en:abnormal lipid profile

•

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

•

en:submucosal macrophages filled with sphingolipids

•

en:normal maltase, isomaltase, and sucrase activity

•

en:increased urinary glutaric acid

•

en:decreased serum carnitine in acute stage

•

en:direct coombs test negative

•

en:decreased or increased serum testosterone

•

en:d-2-hydroxyglutaric aciduria

•

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

•

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

•

en:thyroid dyshormonogenesis 4

•

en:decreased tissue and serum alkaline phosphatase

•

en:increased urinary hydroxyisovaleric acid

•

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

•

en:reduced serum uric acid

•

en:march myoglobinuria

•

en:increased erythrocyte sedimentation rate, episodic

•

en:increased urinary excretion of cystine

•

en:increased serum ammonia (group b)

•

en:increased free cyanocobalamin in fibroblasts

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:increased serum citrulline (group b)

•

en:elevated gamma-glutamyltransferase

•

en:increased urinary mannose-containing oligosaccharides

•

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

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:hyperglycemia

•

en:decreased dna excision repair

•

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

•

en:decreased serum levels of maoa products

•

en:decreased cpt1 activity

•

en:aminoaciduria

•

en:parathyroid hormone-related peptide (pthrp) absent to low

•

en:normal red cell counts

•

en:t-lymphocytopenia

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:very low igm

•

en:absence of cd59 expression on red cells

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:distal xp22.3 segmental monosomy

•

en:hypoproteinemia (in 1 patient)

•

en:microdeletion 22q11.2

•

en:mildly elevated urinary mevalonic acid

•

en:normal urinary cyclic amp response to pth administration

•

en:plasma ammonia not elevated

•

en:type iii collagen defect

•

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

•

en:increased alpha-fetoprotein (1 patient)

•

en:low csf creatinine

•

en:increased serum lysine (group b)

•

en:increased hepatic parenchymal cell stainable iron

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:inappropriately increased urine osmolality

•

en:elevated sed rate

•

en:decreased plasma free carnitine

•

en:decreased activity of 2-methyl-3-hydroxybutyryl co-a dehydrogenase

•

en:creatine decreased

•

en:low plasma citrulline

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:serum corticosterone increased

•

en:hypocalcemia

•

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

•

en:serum homocysteine normal

•

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

•

en:low level of c4 and c2

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:hypercholesterolemia (disorder)

•

en:elevated urine unsulfated chondroitin sulfate

•

en:dhea sulfotransferase below limit of detection

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:cutaneous anergy

•

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

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased tissue levels of free fatty acids

•

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

•

en:decreased activity of ppt1

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en:increased lactate: pyruvate ratio (group b)

•

en:hypocitraturia

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en:hepatic argininosuccinase deficiency

•

en:gaucher disease, type 1

•

en:decreased fibroblast iduronate sulfatase

•

en:increased urinary magnesium

•

en:abnormal n-glycosylation of transferrin

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:mild elevation of cholesterol

•

en:variable respiratory chain enzyme deficiency

•

en:deficiency of laminin alpha-2 chain of merosin (lama2, 156225) in muscle

•

en:raised c-reactive protein

•

en:normal serum biotin concentration

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:lactic acidemia

•

en:increased urinary 3-methylglutaconic acid

•

en:hyperarginemia

•

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

•

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

•

en:elevated il1-beta

•

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

•

en:elevated fasting triglycerides

•

en:impairment of urinary concentration

•

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

•

en:lysosomal-like storage vacuoles in various tissues

•

en:proteinuria (type ii, congenital)

•

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

•

en:'rectilinear profiles' ultrastructurally in cells

•

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

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:glutathione deficiency

•

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

•

en:increased serum butyryl carnitine

•

en:increased serum creatine kinase (1 family)

•

en:low or absent iga levels

•

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

•

en:transient hyperlipidemia

•

en:decreased-absent intestinal mucosa lactase activity

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased serum pyruvate, mild

•

en:increased serum vitamin b12

•

en:increased uric acid level

•

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

•

en:increased urinary 2-hydroxybutyrate

•

en:increased urinary acetoacetic acid

•

en:increased urinary vanillylmandelic acid (vma)

•

en:intermittent increase of urinary ethylmalonic acid

•

en:increased pyruvate in serum and csf

•

en:karyotype analysis normal finding

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en:kypokalemia

•

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

•

en:impaired n-glycosylation

•

en:increased phytanic acid in body tissues and fluids

•

en:increased csf histidine

•

en:high urinary orotic acid

•

en:increased creatinine

•

en:increased chromosomal breakage

•

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

•

en:hypokalemia occurs during paralytic attacks

•

en:hypoalbuminemia (in 83%)

•

en:hyperuricemia

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en:hyperphenylalaninemia

•

en:hypercholesterolemia (10%)

•

en:hypercholesterolemia

•

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

•

en:hypercalciuria

•

en:lower total cholesterol

•

en:liver phosphorylase kinase (phk) deficiency

•

en:normal serum erythropoietin (epo, 133170)

•

en:low fasting glucose (in some patients)

•

en:normal to slightly high alkaline phosphatase

•

en:reduced platelet glycoprotein ib complex

•

en:reduced ferrochelatase activity

•

en:reduced erythrocyte adenosine deaminase activity

•

en:premature chromosome condensation

•

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

•

en:platelet count normal

•

en:plasma aldosterone normal

•

en:phosphorylase kinase normal in muscle

•

en:phosphomannose isomerase deficiency in leukocytes, fibroblasts, or liver

•

en:patient cells have increased levels of lmnb1 mrna and protein

•

en:oligospermia or azoospermia

•

en:no ketosis

•

en:no evidence of intrauterine infection in mother or newborn

•

en:normal transferrin saturation

•

en:normal to elevated total plasma carnitine

•

en:low growth hormone levels

•

en:hemophilia b

•

en:normal or increased serum phytanic acid

•

en:normal dermal hydroxylysine content

•

en:normal cd8+/cd4+ ratio

•

en:normal blood lactate

•

en:nadh-cytochrome b(5) reductase deficiency

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy (50%) affecting all chromosomes

•

en:mild eosinophilia may occur

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en:mildly elevated transaminases

•

en:methylsuccinic aciduria

•

en:metabolic acidosis

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

•

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

•

en:low or undetectable insulin

•

en:heparan sulfate excretion in urine

•

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

•

en:hemizygous deletion at 4p16.3

•

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

•

en:decreased or absent serum ceruloplasmin

•

en:decreased metabolism of thiopurine drugs

•

en:decreased levels of plasma factor viii in patients with type 2n

•

en:decreased ldl cholesterol

•

en:decreased insulin receptor binding

•

en:decreased hdl cholesterol

•

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

•

en:decreased fibroblast arylsulfatase a

•

en:decreased decr enzyme activity

•

en:decreased ciliary motility

•

en:decreased c3 activity

•

en:decreased antithrombin iii (rare)

•

en:decreased aminoacylase-1 activity

•

en:decreased activity of the pyruvate dehydrogenase complex (highly variable, 1-70% of controls)

•

en:decreased activities of multiple sulfatases

•

en:decreased palmitate oxidation

•

en:decreased 3-beta-hydroxysteroid-delta-5-desaturase (sc5d)

•

en:creatine phosphokinase serum increased

•

en:contiguous gene deletion syndrome

•

en:citrullinemia

•

en:cell studies show increased dna breakage

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

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

•

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

•

en:absent tyrosinase activity

•

en:absent axonal flare response after intradermal histamine injection

•

en:5-hiaa csf may be normal or decreased

•

en:4-hydroxyphenylacetic aciduria

•

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

•

en:rhabdomyolysis in response to alcohol

•

en:decreased or normal plasma insulin

•

en:decreased phgdh activity (fibroblasts)

•

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

•

en:elevated prothrombin time

•

en:glycogen accumulation in both liver and muscle

•

en:galactosemia

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:folate-dependent fragile site at xq28

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

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

•

en:fasting hyperinsulinemia

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:euvolemia

•

en:eosinophilia, mild

•

en:elevated urine ceramide levels

•

en:elevated urinary phosphoethanolamine

•

en:elevated dihydrobiopterin in csf

•

en:decreased phytanic acid oxidase activity

•

en:elevated creatine kinase (in some patients)

•

en:elevated alkaline phosphatase of bone origin

•

en:elevated 1,25(oh)2 d3

•

en:electrolyturia (1 patient)

•

en:disorganized growth plate cartilage

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:diaminoaciduria (arginuria, lysinuria, cystinuria, ornithinuria)

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:defect in oxidative phosphorylation

•

en:decrease plasma serine (fasting)

•

en:decreased xanthine dehydrogenase activity

•

en:decreased transferrin increased serum iron

•

en:decreased thyroxine level

•

en:decreased plasma zinc levels

•

en:reduced total and free carnitine in plasma and tissue

•

en:continuous urinary iodine loss

•

en:routine liver function tests normal

•

en:increased tissue levels of triglycerides

•

en:long-chain ketonuria

•

en:lactate high

•

en:ketonuria (1 patient)

•

en:ketonuria

•

en:keratan sulfate excretion in urine that decreases with age

•

en:isovaleric acidemia

•

en:intermittent ethylmalonic aciduria

•

en:intermittent 3-methylglutaconic aciduria

•

en:inner and outer dynein arm defects, variable

•

en:indirect hyperbilirubinemia

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary dicarboxylic acid, transient

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased thyroid-stimulating hormone (tsh)

•

en:low density lipoprotein increased

•

en:increased serum thymidine

•

en:increased serum creatine kinase (patient a)

•

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

•

en:increased serum alanine

•

en:increased rai (radioactive iodine) uptake

•

en:increased plasma lactate

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased plasma branched-chain fatty acids

•

en:increased peripheral blood monocytes

•

en:increased l-2-hydroxyglutaric acid in urine, serum, and csf

•

en:increased ferritin

•

en:increased d-glyceric acid in serum, urine, and csf

•

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

•

en:hypofibrinogenemia

•

en:low-to-normal platelet count

•

en:low ldl cholesterol

•

en:hyperthreoninemia

•

en:organic aciduria

•

en:very low igg

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:telomere shortening

•

en:saccharopine dehydrogenase deficiency

•

en:spongy degeneration of brain on histology

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:serum thyroxine may be decreased or normal

•

en:serum ferritin hyperglycosylation

•

en:reduced unsaturated serum cobalamin binding capacity

•

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:platelet glycoprotein iiia deficiency

•

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

•

en:parathyroid hormone normal

•

en:normal transferrin isoelectric profile

•

en:low plasma tryptophan (inflammatory type b)

•

en:normal to slightly elevated plasma cholesterol

•

en:normal serum 1,25-dihydroxyvitamin d3

•

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

•

en:normal or increased serum phosphate

•

en:normal male karyotype (46,xy)

•

en:normal lysl hydroxylase activity

•

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

•

en:monomeric igm

•

en:mildly increased serum lactate

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:mildly elevated acth

•

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

•

en:median mean platelet volume (mpv) 18fl

•

en:low to normal serum calcium

•

en:hypocalciuria

•

en:t-cell deficit

•

en:hyperlysinemia

•

en:bicarbonaturia

•

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

•

en:decreased cholesterol (less common)

•

en:decreased c3 antigen

•

en:decreased axonal flare response after intradermal histamine injection

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:decreased activity of 2-oxoacid dehydrogenases

•

en:decreased acid beta galactosidase protein and activity

•

en:cytogenetic deletion of chromosome 19q13

•

en:csf pleocytosis, particularly of lymphocytes

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:coagulopathy (inr = 2.2 - 3.5)

•

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

•

en:c-band karyotype shows 'railroad track' appearance

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:anti-factor viii positive

•

en:decreased high molecular weight plasma factor viii/ vwf multimers

•

en:androgens increased

•

en:abnormal liver enzymes (1 patient)

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:4-hydroxyphenylactic aciduria

•

en:laboratory abnormalities

•

en:urocanase deficiency

•

en:unresponsive to acth stimulation

•

en:undetectable urinary hypoxanthine

•

en:type i, classic, decreased antithrombin iii levels

•

en:sterol 27-hydroxylase deficiency

•

en:sialylation defects

•

en:serum prolactin decreased

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:serum creatinine raised

•

en:decreased fibroblast alpha-mannosidase

•

en:serum transaminase increased

•

en:decreased intracellular fmr protein

•

en:elevated serum phosphorus

•

en:decreased mitochondrial respiratory complexes i, iii, and iv in brain, heart, and skeletal muscle

•

en:homocitrullinuria

•

en:hyperalphalipoproteinemia

•

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

•

en:high plasma asparagine

•

en:hepatic lipase deficiency (disorder)

•

en:glucose-6-phosphate deficiency

•

en:fumarase deficiency

•

en:fibroblasts show global defects in multiple mitochondrial respiratory chain activities

•

en:fibrinogen decreased

•

en:elevated urinary pge(2) levels

•

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

•

en:elevated urinary 2-ethylhydracrylate

•

en:elevated sweat chloride (some)

•

en:hyperammonemia, episodic

•

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

•

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

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:decreased plasma esterified cholesterol

•

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

•

en:decreased serum cholesterol (in some)

•

en:defective dna repair

•

en:decreased or normal serum c3

•

en:elevated 7-dehydrocholesterol

•

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

•

en:elevated plasma desmosterol

•

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

•

en:decreased or absent peroxisome acyl-coa oxidase activity and protein

•

en:elevated free carnitine

•

en:elevated bilirubin (bilirubinemia)

•

en:low maximal oxygen uptake on exercise testing

•

en:normal leukocyte and platelet counts

•

en:normal erythrocyte gs activity

•

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

•

en:normal parathyroid hormone (female)

•

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

•

en:methionine adenosyltransferase deficiency

•

en:low serum magnesium

•

en:low serum ceruloplasmin

•

en:low or absent thyrotropin (tsh)

•

en:low or absent prolactin (pl)

•

en:low or absent growth hormone (gh)

•

en:neonatal hypocalcemia

•

en:increased urinary phospholipids

•

en:low copper and ceruloplasmin

•

en:lactate pyruvate ratio normal

•

en:isovalericaciduria

•

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

•

en:increased urinary sulfite

•

en:increased urinary sialylglycopeptides

•

en:increased urinary oligosaccharides

•

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

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased urinary citric acid cycle intermediates

•

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

•

en:increased soluble il2 receptor

•

en:increased serum glutamine

•

en:increased serum ferritin

•

en:normal serum 25-hydroxyvitamin d3

•

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

•

en:normal to increased plasma threonine

•

en:serum ferritin normal

•

en:variable defects of inner dynein arms

•

en:increased serum and csf lactate

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

en:transaminitis

•

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

•

en:thrombocytopenia

•

en:tay-sachs disease

•

en:subtelomeric deletion of chromosome 16p

•

en:some tissues may have normal levels of 3-hydroxyacyl-coa dehydrogenase activity

•

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

•

en:serum triglycerides increased

•

en:serum osmolality decreased

•

en:serum iron low (finding)

•

en:serum growth hormone increased

•

en:serum cholesterol normal

•

en:oestradiol decreased

•

en:sce normal in heterozygotes

•

en:reduced bending capacity of cilia

•

en:pyrimidinuria

•

en:prothrombin time low

•

en:prominent leukocytosis (30,000/ml)

•

en:prolonged prothrombin and partial thromboplastin times

•

en:prolonged bleeding time

•

en:prolidase deficiency

•

en:presence of cytochrome b(-245)

•

en:polyploid sperm heads

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

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

•

en:partial deficiency of factor xi (less common)

•

en:panhypogammaglobulinemia

•

en:increased serum creatine kinase in patients with muscle involvement

•

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

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:decreased copper, iron, zinc

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased serum and muscle coenzyme q

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:decreased plasma total cholesterol

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:decreased or absent steroid sulfatase activity

•

en:decreased or absent pts activity

•

en:decreased nasal nitric oxide (in some patients)

•

en:decreased monoamine oxidase a activity

•

en:decreased methylcobalamin (mecbl)

•

en:decreased levels of csf hypocretin (hcrt, 602358)

•

en:decreased hexokinase activity in red blood cells

•

en:decreased grhpr activity

•

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

•

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

•

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

•

en:decreased adiponectin

•

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

•

en:chronic hypercapnia

•

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

•

en:absent or abnormal thyroglobulin

•

en:absence of outer dynein arms

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:abnormal serum transferrin pattern (in some patients)

•

en:abnormal liver function test

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:abnormal cardiolipin subspecies composition

•

en:2-oxoadipic aciduria

•

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

•

en:decreased serum rt3

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

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

•

en:hypocalcemia, transient

•

en:increased plasma phytanic acid

•

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

•

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

•

en:increased il18

•

en:increased il-6

•

en:increased csf lactate during acute episodes

•

en:increased ammonia with exercise

•

en:increased 18-hydroxycortisol

•

en:impaired response to gm-csf

•

en:impaired oxidation of pyruvate

•

en:immotile or weakly motile cilia

•

en:immediate (type i) skin test reactivity

•

en:hypocalcemia (male)

•

en:hypertriglyceridemia (rare)

•

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

•

en:hyperammonemia

•

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

•

en:high serum osmolality

•

en:high plasma citrulline (100-300 micromolar)

•

en:high ft3/ft4 ratio

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:hematuria

•

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

•

en:ferritin decreased

•

en:elevated serum protein

•

en:elevated serum parathyroid hormone (pth)

•

en:elevated plasma phytanic acid

•

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

•

en:elevated androstenedione and testosterone

•

en:3-methylglutaconic aciduria

•

en:increased il1b increased soluble il2r

•

en:abnormal cartilage collagen on em

•

en:increased urinary urate

•

en:methemoglobin concentration 12 to 19%

•

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

•

en:low serum igg and iga

•

en:low serum calcium

•

en:low or absent adrenocorticotropic hormone (acth)

•

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

•

en:low free carnitine

•

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

•

en:low-molecular-weight proteinuria

•

en:lactic acidosis

•

en:interstitial or terminal deletion of 18q

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary s-sulfocysteine

•

en:mildly elevated creatine phosphokinase

•

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

•

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

•

en:increased urinary adenosine

•

en:increased susceptibility to ebv infection

•

en:increased serum serotonin in 25%

•

en:increased serum beta-hexosaminidase

•

en:increased serum alkaline phosphatase (in some patients)

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased prevalence among the native american lumbee indians

•

en:increased plasma proinsulin

•

en:increased plasma phospholipids

•

en:increased lysine in serum and csf

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:microduplication of chromosome 5p13

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

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

•

en:pt normal

•

en:abnormal isoelectric focusing of serum transferrin

•

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

•

en:uric acid normal

•

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

•

en:type 1 collagen overmodification

•

en:thyroid dyshormonogenesis 5

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:serum creatine kinase may be normal

•

en:serum cholesterol low or normal

•

en:serum bilirubin increased

•

en:schirmer test shows alacrima

•

en:rheumatoid factor negative

•

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

•

en:prothrombin time increased

•

en:mucopolysaccharidosis type iiid

•

en:positive urinary bratton-marshall test

•

en:platelet factor 4 decreased

•

en:partial deficiency of factor xiii (less common)

•

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

•

en:no dicarboxylic aciduria

•

en:normal urinary pterins

•

en:normal renin level

•

en:normal phytanic acid

•

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

•

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

•

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

•

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

•

en:normal free urinary cortisol

•

en:normal cerebrospinal fluid

•

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

•

en:serum gastrin increased

•

en:increased blood alanine

•

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

•

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

•

en:decreased tetrasialo-transferrin

•

en:decreased telomerase activity

•

en:decreased serum luteinizing hormone (lh)

•

en:decreased serum leptin

•

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

•

en:decreased mitochondrial nadp(h)

•

en:decreased methylmalonyl-coa mutase activity

•

en:decreased glycerol kinase activity

•

en:decreased cortisol-binding globulin

•

en:decreased coproporphyrinogen oxidase activity (hcp, lymphocytes, 50% of normal)

•

en:decreased circulating aldosterone level

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:cystathionine beta-synthase deficiency disease

•

en:decreased whole blood serotonin

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:cholesterol normal

•

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

•

en:cd4+/cd8+ ratio often reversed

•

en:calciuria

•

en:bleeding time normal

•

en:antithrombin iii decreased

•

en:anomalies of cholesterol levels

•

en:allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma

•

en:aldolase a deficiency

•

en:abnormal transaminases (1 patient)

•

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

•

en:incomplete n-glycosylation of cellular proteins

•

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

•

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

•

en:aldosterone level increased above normal

•

en:defective (ca2+) mobilization in t cells

•

en:extremely low creatine excretion

•

en:defect in chylomicron secretion

•

en:hyperphosphatemia

•

en:hyperornithinemia

•

en:hypomagnesemia

•

en:hyperglycinemia (1 patient)

•

en:hyperglutaminemia

•

en:hyperchloremia (mean 114 mm)

•

en:high sister chromatid exchange (sce) rate

•

en:hereditary fructose intolerance

•

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

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:female carriers show markedly skewed x inactivation

•

en:fasting chylomicronemia

•

en:hyperlactemia

•

en:elevated serum uric acid concentrations

•

en:dilated rough endoplasmic reticulum (rer)

•

en:deficiency of creatine phosphate in brain

•

en:elevated serum iron

•

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

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

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

•

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

•

en:igg, decreased

•

en:elevated plasma propionylcarnitine

•

en:elevated 17-hydroxyprogesterone

•

en:elevated androstenedione

•

en:elevated erythrocyte adenosine deaminase

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:elevated sepiapterin in csf

•

en:inappropriately normal or increased plasma hepcidin

•

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

•

en:iron deficiency

•

en:keratan sulfaturia in some patients

•

en:ketonemia

•

en:leukotriene c4 synthetase deficiency

•

en:lactate dehydrogenase increased

•

en:lipopigment in extraneuronal cells

•

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

•

en:low-normal igm

•

en:low or normal serum calcium

•

en:indirect bilirubin increased

•

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

•

en:increased urinary uracil

•

en:increased urinary hypoxanthine

•

en:increased urinary cortisol/cortisone ratio

•

en:increased urinary 3-oh-butyric acid

•

en:increased triglycerides (less common)

•

en:increased serum total cholesterol

•

en:increased serum levels of free plasma thyroid hormones

•

en:increased serum creatine kinase during episodes

•

en:increased serum acylcarnitines

•

en:increased free erythrocyte protoporphyrin

•

en:increased csf transferrin despite normal serum transferrin levels

•

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

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:osteocalcin increased

•

en:low serum alkaline phosphatase in heterozygotes

•

en:peroxisome deficiency

•

en:widespread interstitial fibrosis (visceral organs)

•

en:hypoproteinemia due to hypercatabolism

•

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

•

en:tyrosine loss

•

en:tsh decreased

•

en:thyroid peroxidase defect

•

en:serum creatine kinase may be normal or elevated

•

en:serum creatine kinase may be increased

•

en:serum c-peptide and glucagon levels measurable

•

en:serum albumin low result

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:prolonged activated partial prothrombin time (appt)

•

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

•

en:low total serum protein

•

en:normal serum complement levels

•

en:normal serum bile acids

•

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

•

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

•

en:normal plasma renin

•

en:normal lysyl oxidase activity

•

en:normal constitutional karyotype

•

en:myoglobinuria

•

en:mildly elevated blood ammonia

•

en:mildly decreased serum creatinine

•

en:methylmalonic acidemia

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:iga antiendomysial antibodies (ema)

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:hypertriglyceridemia, transient

•

en:balanced/unbalanced chromosomal translocation t(2,13)(q36,q11)

•

en:decreased csf arginine

•

en:decreased beta-glucosidase protein and activity

•

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

•

en:decreased activity of tyrosine hydroxylase

•

en:decreased activity of thymidine phosphorylase

•

en:decreased activity of galactocerebrosidase

•

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

•

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

•

en:decreased acid sphingomyelinase activity

•

en:cholesterol low

•

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

•

en:bile contains cholesterol crystals

•

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

•

en:decreased mitochondrial complex iii activity (skeletal muscle, fibroblasts)

•

en:aneuploidy of the x chromosome

•

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

•

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

•

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

•

en:absent-decreased prolyl 3-hydroxylation at collagen i alpha-1 pro986

•

en:abnormal urinary oligosaccharides

•

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

•

en:abnormal schilling test (not normalized by addition of intrinsic factor)

•

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

•

en:abnormal liver enzymes (in some patients)

•

en:3-methylglutaric aciduria (3-mga)

•

en:abacterial leukocyturia

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:decreased plasminogen antigen

•

en:hyperprostaglandinuria

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:hyperoxalaemia

•

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

•

en:homocysteinemia

•

en:high plasma triglyceride levels

•

en:hawkinsinuria

•

en:hair bulbs will pigment when incubated with tyrosine

•

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

•

en:green serum

•

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

•

en:glyoxalase deficiency

•

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

•

en:glomerular filtration rate decreased

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:decreased secretion of igf1 in response to gh administration

•

en:elevated testosterone

•

en:elevated serum long-chain fatty acids

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:elevated liver transaminases

•

en:elevated hcg or afp or both (embryonal carcinoma)

•

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

•

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

•

en:elevated ammonia

•

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

•

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

•

en:decreased von willebrand factor

•

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

•

en:2-aminoadipic aciduria

•

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

•

en:abnormal liver enzymes, intermittent

•

en:low or absent luteinizing hormone (lh)

•

en:normal csf 5-hiaa

•

en:normal concentration of parathyroid hormone

•

en:normal calcium (female)

•

en:mild hyperammonemia

•

en:methylmalonic aciduria

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:metachromasia of white blood cells and fibroblasts

•

en:medium chain dicarboxylic aciduria

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:low serum levels of ketone bodies

•

en:low or normal serum erythropoietin

•

en:liver transaminases normal to slightly increased

•

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

•

en:lack of ciliary motility

•

en:karyomegaly may be found in other visceral organs

•

en:increased urinary sulfatide excretion

•

en:increased urinary l-glycerate

•

en:increased urinary isobutyryl glycine

•

en:increased urinary catecholamines (with pheochromocytoma)

•

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

•

en:increased uracil and dihydrouracil in bodily fluids

•

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

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum deoxyuridine

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:normal serum folate levels

•

en:patient cells show increased chromosome breakage

•

en:increased plasma pipecolic acid

•

en:serum copper decreased

•

en:variable hyperlipidemia

•

en:tyrosinemia

•

en:transient neonatal hypocalcemia (2p21del)

•

en:thyroid hormone organification defect

•

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

•

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

•

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

•

en:severe amyloid angiopathy

•

en:serum pristanic acid increased

•

en:serum phosphate concentration below normal

•

en:serum folate low

•

en:serum cortisol decreased

•

en:serum calcium elevated

•

en:persistent ebv viremia

•

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

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:renin decreased

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

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

•

en:proper antibody response to protein vaccinations

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:positive antinuclear antibody test

•

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

•

en:abnormal liver function tests (in some patients)

•

en:phosphaturia may disappear after a long period of time

•

en:increased serum bile acids

•

en:pms show deficient oxidation of debrisoquine

•

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

•

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

•

en:defect in n- and o-glycosylation

•

en:defect in double-stranded dna repair

•

en:decreased serum free thyroxine

•

en:decreased serum androgens

•

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

•

en:decreased plasma total and free carnitine

•

en:decreased plasmalogens

•

en:decreased or absent serum citrulline

•

en:decreased or absent glycogen branching enzyme activity

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:decreased erythrocyte plasmalogen

•

en:decreased asparagine levels (in some patients)

•

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

•

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

•

en:chronic hypoxemia

•

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

•

en:chromosomal instability

•

en:cerebrospinal fluid lymphocytosis

•

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

•

en:balanced translocation carrier 46,xy,+(11:18)(p13:q21)mat

•

en:amyloidosis, (iowa type 107680.0010, nonneuropathic 107680.0016)

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:aminoaciduria, intermittent

•

en:absent 7-dehydrocholesterol

•

en:abnormal myelination in sural nerve biopsies

•

en:increased disialotransferrin and asialotransferrin levels

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:decreased activity of dihydrofolate reductase

•

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

•

en:homocystinuria

•

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

•

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

•

en:increased csf pyruvic acid

•

en:increased csf protein

•

en:increased csf and plasma gaba

•

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

•

en:increased cellular sensitivity to uv light

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:immunoglobulin antibodies present

•

en:hypoalphalipoproteinemia

•

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

•

en:hydrocortisone decreased

•

en:inappropriately low urine osmolality

•

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

•

en:elevated propionate

•

en:hemizygous deletion at 7q11.23

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:gm2-ganglioside accumulation

•

en:glycogen storage disease type vii

•

en:frequent deletions of chromosome 9 in melanoma

•

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

•

en:excessive iodide trapping

•

en:elevated plasma and urine succinylacetone

•

en:elevated total bilirubin

•

en:elevated serum parathyroid hormone (pth) level

•

en:heparin cofactor ii deficiency (disorder)

•

en:increased urinary creatine

•

en:increased urinary 2-butanone

•

en:low or absent follicle stimulating hormone (fsh)

•

en:increased uric acid with exercise

•

en:intracellular granular material on ultrastructural analysis

•

en:increased serum pyruvate

•

en:increased urinary fumaric acid

•

en:liver function tests normal

•

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

•

en:iron overload (in some patients)

•

en:leukocytosis

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:low cholesterol esterification rates

•

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

•

en:increased serum gamma-ggt (231950)

•

en:hypercholesterolemia (reported in 2 patients)

•

en:increased neopterin in urine and csf

•

en:increased interferon-alpha signal

•

en:increased csf interferon

•

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

•

en:increased cholesterol

•

en:increased bone serum acid phosphatase

•

en:impaired creatine uptake in fibroblasts

•

en:immunoreactive pc protein

•

en:igg deficiency

•

en:hyposialylation of o-linked serum glycans

•

en:hyperoxaluria

•

en:hyperlipoproteinemia type i

•

en:homozygous 122kb deletion 11p15-p14

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:low serum acth

•

en:low plasma free and total carnitine

•

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

•

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

•

en:reduced beating amplitudes in cilia

•

en:xanthine nephrolithiasis

•

en:vitamin k deficiency

•

en:vitamin b12 deficiency (uncommon)

•

en:vacuolated lymphocytes

•

en:t cells may be increased or decreased

•

en:transferrin saturation increased

•

en:thrombocytosis (in some patients)

•

en:serum transferrin glycosylation is normal

•

en:serum prolactin increased

•

en:serum lactate is usually normal

•

en:serum iron normal

•

en:serum carnitine deficiency

•

en:serum c-reactive protein may be increased

•

en:serum alpha-1-antitrypsin (pi) deficiency

•

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

•

en:mitochondrial complex i deficiency in muscle

•

en:normal serum parathyroid hormone (pth)

•

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

•

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

•

en:myelin basic protein measurement, spinal fluid

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:normal plasma phytanic acid

•

en:normal pyridinoline excretion in urine

•

en:normal serum transferrin profiles

•

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

•

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

•

en:no hyperuricemia

•

en:orotic acid crystalluria

•

en:partial deficiency of factor xii(c)

•

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

•

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

•

en:hepatic gamma-cystathionase deficiency

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Génériques

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en:elevated

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845866 • caches: c1=16 c2=1579 c3=2

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