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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C1855375

Associations d'idées

[F]

›

1000

en:reduced igg levels, particularly igg2 subclass

•

en:increased serum levels of free plasma thyroid hormones

•

en:lysine-ketoglutarate reductase deficiency

•

en:decreased activity of ampd1 in skeletal muscle increased serum creatine kinase

•

en:decreased csf pyridoxal

•

en:decreased plasma apolipoprotein c-ii

•

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

•

en:elevated serum bile acids

•

en:immediate (type i) skin test reactivity

•

en:increased 18-hydroxycortisol

•

en:elevated alpha-ketoglutarate (in most patients)

•

en:increased urinary 2-methylacetoacetic acid

•

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

•

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

•

en:increased urinary carnitine esters

•

en:increased serum serotonin in 25%

•

en:low csf creatine

•

en:hyperglycinemia (1 patient)

•

en:elevated 3-methylcitric acid

•

en:cystathioninuria (lab finding)

•

en:abnormal phospholipid profile

•

en:plasma aldosterone normal

•

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

•

en:decreased cholesterol (less common)

•

en:decreased serum factor h (atypical hus)

•

en:elevated pth (parathyroid hormone)

•

en:hydroxyprolinuria

•

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

•

en:lower total cholesterol

•

en:low total serum protein

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:no cartilage staining with toluidine blue

•

en:accumulation of shortened dolichol-linked oligosaccharides in patient fibroblasts

•

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

•

en:increased urinary methylcitrate

•

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

•

en:patient cells show increased chromosome breakage

•

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

•

en:low plasma free and total carnitine

•

en:march myoglobinuria

•

en:increased serum unconjugated bilirubin

•

en:increased serum citrulline (group b)

•

en:elevated total bilirubin

•

en:decreased red cell pyruvate kinase activity

•

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

•

en:decreased copper, iron, zinc

•

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

•

en:increased urinary 2-hydroxybutyrate

•

en:increased uric acid level

•

en:increased disialo- and asialotransferrin

•

en:hyperuricuria

•

en:hyperglycinemia

•

en:hyperglycemia

•

en:calciuria

•

en:elevated urine ceramide levels

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:direct hyperbilirubinemia

•

en:decreased serum vitamin a

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:abnormal fecal fat

•

en:increased urinary potassium

•

en:liver enzymes abnormal

•

en:low fasting glucose (in some patients)

•

en:hypokalemia

•

en:renin decreased

•

en:undetectable serum arginine vasopressin, or antidiuretic hormone (adh, avp, 192340)

•

en:lactic acidosis

•

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

•

en:impaired creatine uptake in fibroblasts

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:organic aciduria

•

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

•

en:decreased csf homovanillic acid (hva)

•

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

•

en:decreased acid sphingomyelinase activity

•

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

•

en:very low iga

•

en:decreased dna excision repair

•

en:increased long-chain acylcarnitine

•

en:mild elevation of transaminases

•

en:increased urine porphyrins at times

•

en:increased plasma free cholesterol

•

en:increased nasal-potential difference (some)

•

en:decreased levels of plasma vwf antigen

•

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

•

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

•

en:defect in double-stranded dna repair

•

en:chromosome inversion - inv2(p12q14) in 2 patients

•

en:pipecolic acidemia

•

en:pentagastrin stimulation test

•

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

•

en:presence of pc mrna

•

en:increased urinary 7-biopterin (primapterin)

•

en:prolonged activated partial prothrombin time (appt)

•

en:low or normal serum erythropoietin

•

en:serum copper decreased

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:normal serum transferrin profiles

•

en:elevated serum uric acid concentrations

•

en:creatine decreased

•

en:elevated liver transaminases

•

en:tsh decreased

•

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

•

en:decreased s-ado:saicar ratio

•

en:bicarbonaturia

•

en:aminoaciduria

•

en:chondroitin 6-sulfate excretion in urine

•

en:decreased asparagine levels (in some patients)

•

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

•

en:distal xp22.3 segmental monosomy

•

en:increased ck-mb

•

en:increased creatinine

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:mild eosinophilia may occur

•

en:serum testosterone decreased

•

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

•

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

•

en:cytogenetic deletion of chromosome 17p13.3

•

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

•

en:shortened telomeres (in 1 of 2 patients)

•

en:low serum uric acid

•

en:low free carnitine

•

en:lack of lysosomal inclusions in visceral organs

•

en:low to normal serum calcium

•

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

•

en:decreased uros activity (1 patient)

•

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

•

en:decreased activity of mitochondrial respiratory complexes

•

en:decrease plasma serine (fasting)

•

en:elevated liver enzymes

•

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

•

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

•

en:decreased activity of mitochondrial complex i

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:homocystinemia

•

en:impairment of urinary concentration

•

en:reduced ferrochelatase activity

•

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

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:cd4+/cd8+ ratio is reversed

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

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

•

en:fibronectin decreased

•

en:hypocalciuria

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased urinary neopterin

•

en:increased urinary tricarboxylic acid intermediates

•

en:premature separation of centromeric heterochromatin

•

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

•

en:serum testosterone level normal

•

en:elevated urinary hyaluronic acid levels

•

en:normal red cell counts

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:secondary decrease of plasma free carnitine

•

en:reduced erythrocyte gs activity

•

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

•

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

•

en:normal constitutional karyotype

•

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

•

en:median mean platelet volume (mpv) 12.5fl

•

en:decreased b cells

•

en:decreased tetrasialotransferrin levels

•

en:decreased or absent ciliary motility

•

en:dehydration

•

en:increased plasma vldl, ldl

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:low plasma methionine

•

en:increased uric acid with exercise

•

en:increased serum gm-csf

•

en:occasional hypomagnesemia

•

en:increased csf homovanillic acid (hva)

•

en:fibrinogen decreased

•

en:elevated serum iron and iron binding capacity

•

en:elevated plasma citrulline (citrullinemia)

•

en:increased csf glycine

•

en:decreased ubiquinone-10

•

en:increased serum lactate hydrogenase

•

en:hypoglycemia, fasting

•

en:hematuria, macroscopic and microscopic

•

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

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

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

•

en:decreased iga, igg, igm

•

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

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:mild hypertriglyceridemia

•

en:increased serum prostaglandin e2

•

en:decreased nasal nitric oxide

•

en:normal plasma and tissue carnitine

•

en:lack of ciliary motility

•

en:serum alkaline phosphatase normal or mildly increased

•

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

•

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

•

en:mitochondrial complex i deficiency in muscle

•

en:low serum alpha-fetoprotein (recessive)

•

en:serum creatine kinase may be normal

•

en:hypercholesterolemia (disorder)

•

en:elevated plasma stigmasterol

•

en:decreased serum cobalamin

•

en:decreased leptin

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:sterol 27-hydroxylase deficiency

•

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

•

en:increased urinary uracil

•

en:infantile hypophosphatasia

•

en:irregularly shaped sperm heads

•

en:ketoses, metabolic

•

en:low or absent thyrotropin (tsh)

•

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

•

en:low-normal igm

•

en:mildly elevated transaminases

•

en:low to normal plasma methionine

•

en:methylenetetrahydrofolate reductase deficiency

•

en:mildly elevated hepatic enzymes

•

en:increased urinary homovanillic acid (hva)

•

en:increased 11-deoxycorticosterone

•

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

•

en:increased urinary excretion of coproporphyrin i

•

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

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased urinary cortisol/cortisone ratio

•

en:increased urinary acetoacetic acid

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased serum vitamin b12

•

en:increased serum c26-bile-acid intermediates

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased renal tubular phosphate reabsorption

•

en:increased plasma creatine

•

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

•

en:increased fas ligand

•

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

•

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

•

en:serum ammonia increased

•

en:myoglobinuria

•

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

•

en:abnormal nasal potential difference

•

en:abnormal liver enzymes (rare)

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

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

•

en:very low igm

•

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

•

en:transient neonatal hypoglycemia (2p21del)

•

en:thrombocytopenia

•

en:serum phosphate normal

•

en:serum folate normal

•

en:serum cortisol elevated

•

en:serum bicarbonate increased

•

en:hypoproteinemia due to hypercatabolism

•

en:rhabdomyolysis in response to alcohol

•

en:prothrombin time low

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

en:presence of serum anti-lu3 antibodies

•

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

•

en:predominance of the d-stereoisomer

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:phosphorylase kinase normal in muscle

•

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

•

en:partial deficiency of factor xi(c)

•

en:parathyroid hormone level increased

•

en:orotic aciduria

•

en:oligospermia or azoospermia

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal serum erythropoietin (epo, 133170)

•

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

•

en:normal parathyroid hormone (female)

•

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

•

en:glycogen accumulation in both liver and muscle

•

en:hypomethioninemia

•

en:csf pleocytosis, particularly of lymphocytes

•

en:decreased numbers of t regulatory cells

•

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

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

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

•

en:decreased levels of plasma factor viii

•

en:decreased glycerol kinase activity

•

en:decreased erythrocyte plasmalogen

•

en:decreased csf glycine

•

en:decreased circulating aldosterone level

•

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

•

en:decreased activity of dihydrofolate reductase

•

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:chronic hypoxemia

•

en:decreased serum androgens

•

en:chromosomal instability

•

en:cd4+/cd8+ ratio often reversed

•

en:carriers have balanced constitutional translocation - 46,xx(or xy), +(11:22)(q23:q11)

•

en:biotinidase deficiency

•

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

•

en:antineutrophil cytoplasmic antibody

•

en:alkaline phosphatase decreased

•

en:acute-phase reactants during fever

•

en:absent platelet agglutination in presence of ristocetin

•

en:absent ch50 activity in complete c4 deficiency

•

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

•

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

•

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

•

en:absence of cpt ii protein

•

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

•

en:decreased serum leptin

•

en:hypocitraturia

•

en:green serum

•

en:hyperlipidemia

•

en:hypercholesterolemia (in 75%)

•

en:hypercalciuria (in some patients)

•

en:hyperbilirubinemia

•

en:hyperammonemia

•

en:homocysteinemia

•

en:high sweat electrolyte

•

en:high plasma citrulline (100-300 micromolar)

•

en:hereditary factor x deficiency

•

en:hepatic ornithine transcarbamylase deficiency

•

en:hemoglobin decreased

•

en:hematuria

•

en:hawkinsinuria

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:glyoxalase deficiency

•

en:decreased tetrasialo-transferrin

•

en:glycogen storage disease type vi

•

en:fragmentation of the mitochondrial network

•

en:farber lipogranulomatosis

•

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

•

en:elevated urinary ornithine, lysine, arginine

•

en:elevated serum transferrin saturation

•

en:elevated serum lactate

•

en:elevated plasma desmosterol

•

en:elevated fasting glucose

•

en:elevated bilirubin (bilirubinemia)

•

en:dhea sulfotransferase below limit of detection

•

en:deficiency of fructokinase

•

en:defect in chylomicron secretion

•

en:decreased tissue and serum alkaline phosphatase

•

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

•

en:elevated biopterin in csf

•

en:absence of peroxidase staining in neutrophils and monocytes

•

en:low ldl cholesterol

•

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

•

en:normal concentration of parathyroid hormone

•

en:normal collagen type i studies

•

en:multiple tissue biopsies show lysosomal storage disease

•

en:multiple autoantibodies

•

en:mild elevation of triglycerides

•

en:mildly elevated hdl in heterozygotes

•

en:mildly elevated acth

•

en:methioninuria

•

en:low urinary excretion of neutral 17-ketosteroids

•

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

•

en:low serum acth

•

en:low plasma arginine

•

en:long-chain ketonuria

•

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

•

en:lactate high

•

en:incresased urinary pyruvate

•

en:increased urinary urate

•

en:increased urinary s-sulfocysteine

•

en:increased urinary glycerol

•

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

•

en:increased urinary 2-methylbutyrylglycine

•

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

•

en:increased serum lactate in acute stage

•

en:increased serum lactate (mild)

•

en:increased serum iduronate sulfatase

•

en:increased serum erythropoietin (epo, 133170)

•

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

•

en:increased plasma lactate

•

en:normal plasma total homocysteine

•

en:normal pyridinoline excretion in urine

•

en:increased ige level

•

en:serum carnitine deficiency

•

en:maple syrup urine disease

•

en:xanthine nephrolithiasis

•

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

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:transferrin saturation increased

•

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

•

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

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

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

•

en:serum pristanic acid increased

•

en:serum phosphate concentration below normal

•

en:serum iron normal

•

en:serum ferritin hyperglycosylation

•

en:schirmer test shows alacrima

•

en:normal serum and mucosal iga

•

en:saposin a deficiency (finding)

•

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

•

en:reduced unsaturated serum cobalamin binding capacity

•

en:pt normal

•

en:prothrombin time increased

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

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

•

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

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:no chromosomal breakage

•

en:normal tyrosinase

•

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

•

en:normal sweat electrolytes

•

en:normal serum cobalamin (vitamin b12)

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:thyroid dyshormonogenesis 5

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

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

•

en:decreased serum 25-hydroxyvitamin d

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

en:decreased or normal serum factor b

•

en:decreased or normal plasma insulin

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:decreased mitochondrial complex iii activity in muscle

•

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

•

en:decreased metabolism of thiopurine drugs

•

en:decreased csf folate

•

en:decreased clot retraction

•

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

•

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

•

en:decreased serum c3 (atypical hus)

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

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

•

en:creatine phosphokinase serum increased

•

en:chylomicronemia, refractory fasting

•

en:chromosome 11q23.3 deletion

•

en:chromosomal mosaicism in cultured cells

•

en:cerebrospinal fluid oligoclonal bands

•

en:cell studies show increased dna breakage

•

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

•

en:atrial abnormalities on electrocardiogram

•

en:aminoaciduria, intermittent

•

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

•

en:increased 11-deoxycortisol

•

en:acute hyperammonemia

•

en:decreased serum alpha-2 macroglobulin levels

•

en:antiphospholipid antibody

•

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

•

en:factor vii deficiency

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:decreased telomere length in lymphocytes

•

en:igg, decreased

•

en:immunoglobulin antibodies present

•

en:hypoglycemia, intermittent

•

en:hyperlysinemia

•

en:hyperammonemia, episodic

•

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

•

en:hereditary fructose intolerance

•

en:hereditary angioedema

•

en:hepatic lipase deficiency (disorder)

•

en:green urine

•

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

•

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

•

en:hyposialylation of o-linked serum glycans

•

en:epstein-barr viraemia

•

en:elevated 2-ketoglutarate (urine)

•

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

•

en:decreased udp-glcnac

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:deficiency or absence of p91-phox protein

•

en:elevated 1,25(oh)2 d3

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:elevated ammonia

•

en:elevated gamma-glutamyltransferase

•

en:elevated gastrin concentration

•

en:elevated plasma estrogen

•

en:elevated serum transaminase levels

•

en:elevated urinary 2-ethylhydracrylate

•

en:low serum alkaline phosphatase in heterozygotes

•

en:low alkaline phosphatase

•

en:low leukocyte alkaline phosphatase activity

•

en:low or absent prolactin (pl)

•

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

•

en:lysosomal-like storage vacuoles in various tissues

•

en:markedly reduced iga levels

•

en:monoclonal gammopathy

•

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

•

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

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:increased soluble il2 receptor

•

en:karyotype analysis normal finding

•

en:indirect bilirubin increased

•

en:increased urinary hypoxanthine

•

en:increased urinary glutaric acid

•

en:increased urinary dihydropyrimidines

•

en:increased urinary carnitine

•

en:increased serum thrombopoietin may occur

•

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

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:increased plasma levels of bile acid intermediates

•

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

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased il18

•

en:increased di- and asialo-transferrin

•

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

•

en:prolonged prothrombin and partial thromboplastin times

•

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

•

en:reduced platelet glycoprotein ib complex

•

en:tyrosinemia (transient, resolves in infancy)

•

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

•

en:transient eosinophilia in first decade

•

en:thyroid hormones increased

•

en:sweat test normal

•

en:some cilia show central complex and radial spoke defects

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:sialylation defects

•

en:serum creatine kinase may be normal or elevated

•

en:serum calcitonin, increased

•

en:reticulocyte count increased

•

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

•

en:proteinuria (type ii, congenital)

•

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

•

en:propionic acidemia

•

en:peroxisome deficiency

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:no elevation of free fatty acids

•

en:normal total urinary coproporphyrin

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal or increased serum creatine kinase

•

en:normal number of t and b lymphocytes

•

en:normal isoelectric focusing of serum transferrin

•

en:normal iga levels

•

en:normal dermal hydroxylysine content

•

en:normal complex ii activity

•

en:normal ciliary structure and function

•

en:increased c10:2-carnitine

•

en:deficiency of serum properdin p factor

•

en:hypoglycosylation of plasma glycoproteins

•

en:a small minority of patients have translocations and inversions involving 16p13.3

•

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

•

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

•

en:decreased mitochondrial nadp(h)

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:decreased factor xi

•

en:decreased erythrocyte 2,3-diphosphoglycerate (2,3-dpg)

•

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

•

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

•

en:decreased csf serine

•

en:decreased activity of nadph oxidase

•

en:ceruloplasmin decreased

•

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

•

en:azoospermia/oligospermia (present at diagnosis)

•

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

•

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

•

en:aminoaciduria (rare)

•

en:alpha fetoprotein increased

•

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

•

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

•

en:abnormal serum transferrin pattern (in some patients)

•

en:abnormal liver enzymes (in some patients)

•

en:abnormal igfr1 function

•

en:abnormal acylcarnitine profiles

•

en:4-hydroxyphenyllactic aciduria

•

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

•

en:3-methylglutaric aciduria

•

en:decreased serum thiamine pyrophosphate

•

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

•

en:hyperoxalaemia

•

en:foam cells in bone marrow and renal glomeruli

•

en:hypercholesterolemia

•

en:hyperammonemia after protein intake

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:homocystinuria (in some patients)

•

en:high serum osmolality

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

en:glycinuria

•

en:glutaric aciduria

•

en:glomerular filtration rate decreased

•

en:gaucher disease, type 1

•

en:galactosuria without galactosemia

•

en:fluorescence of red blood cells by uv microscopy

•

en:delta-1-pyrroline-3-hydroxy-5-carboxylate levels increased in urine

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated liver function tests

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:elevated free carnitine

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:elevated cerebrospinal fluid (csf) protein

•

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

•

en:electrolyte disturbances from intractable diarrhea

•

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

•

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

•

en:laboratory abnormalities

•

en:n-glycosylation defect

•

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

•

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

•

en:normal calcium (female)

•

en:normal axonal flare response after intradermal histamine injection

•

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

•

en:n-acetyl-alpha-d-glucosaminidase deficiency in fibroblasts

•

en:myelin basic protein measurement, spinal fluid

•

en:monomeric igm

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:methemoglobin concentration 12 to 19%

•

en:medium chain dicarboxylic aciduria

•

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

•

en:markedly reduced igg levels

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low-molecular-weight proteinuria

•

en:normal mitochondrial respiratory chain complex i-v (hcs)

•

en:isovaleric acidemia

•

en:interstitial or terminal deletion of 18q

•

en:increased urinary oxylate

•

en:increased urinary hga

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary excretion of camp

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased total bilirubin may occur

•

en:increased sodium-potassium pump activity

•

en:increased serum glycerol

•

en:increased serum creatine kinase in acute stage

•

en:increased serum bilirubin (in some patients)

•

en:normal lactate (hcs)

•

en:normal plasma phytanic acid

•

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

•

en:round, yellow-brown dha urine crystals

•

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

•

en:variably increased serum creatine kinase

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:undetectable plasma dbh activity

•

en:transcobalamin ii deficiency

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum transferrin glycosylation is normal

•

en:serum prolactin increased

•

en:serum cortisol decreased

•

en:serum cholesterol low or normal

•

en:serum and csf lactate may be increased

•

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

•

en:normal renin level

•

en:prolonged partial thromboplastin time (ptt)

•

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

•

en:plasma ammonia not elevated

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:patient cells show abnormal mitochondrial morphology

•

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

•

en:no ketonuria

•

en:no evidence of perinatal infection

•

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

•

en:normal serum phytanic and pristanic acid

•

en:normal serum lipoprotein levels

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:increased serum alanine

•

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

•

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

•

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

•

en:decreased palmitate oxidation

•

en:decreased nk cells (in some patients)

•

en:decreased erythrocyte lactate clearance (transport), 40 to 50% of normal values

•

en:decreased eno3 activity

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

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

•

en:decreased aminoacylase-1 activity

•

en:decreased adiponectin

•

en:decreased activity of thymidine phosphorylase

•

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

•

en:d-2-hydroxyglutaric aciduria

•

en:contiguous gene deletion syndrome

•

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

•

en:decreased t cells

•

en:broad tissue deposition of amylopectin-like material

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:aspartylglycosaminuria

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:androgens increased

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

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

•

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

•

en:abnormal oral glucose tolerance

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abnormal liver function tests (in some patients)

•

en:impaired platelet aggregation

•

en:decreased plasma lpl levels (in some patients)

•

en:abnormal secretin test

•

en:decreased urinary sulfate

•

en:giant cells (degenerating chondrocytes) in resting zone of epiphyseal cartilage

•

en:impaired mitochondrial translation

•

en:deficiency of alpha-1,4-glucosidase (acid maltase)

•

en:hyponatremic dehydration, rarely

•

en:impaired o-glycosylation

•

en:hypoalbuminemia

•

en:hypertryptophanemia

•

en:hypercholesterolemia (reported in 2 patients)

•

en:hyperchloremia (mean 114 mm)

•

en:homozygous 122kb deletion 11p15-p14

•

en:high serum inosine levels

•

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

•

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

•

en:hyponatremia

•

en:frequent deletions of chromosome 9 in melanoma

•

en:elevated alkaline phosphatase (in one patient)

•

en:fasting chylomicronemia

•

en:deficiency of phosphatidylinositol (4,5) bisphosphate 5-phosphatase (ptdins(4,5)p(2) 5-phosphatase) in cultured fibroblasts

•

en:dyslipidemia

•

en:duplication or deletion at 11p15.5

•

en:elevated acth

•

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

•

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

•

en:elevated serum angiotensin-converting enzyme (ace)

•

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

•

en:elevated serum parathyroid hormone (pth)

•

en:elevated long chain fatty acids

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

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

•

en:low copper and ceruloplasmin

•

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

•

en:low urinary orotic acid

•

en:neutral hyperaminoaciduria

•

en:microtubule disorganization in some cilia

•

en:mildly decreased serum creatinine

•

en:neutropenia (in 1 patient)

•

en:normal liver histology

•

en:normal or mildly reduced serum cobalamin

•

en:low-to-normal csf lactate

•

en:increased serum transferrin

•

en:isovalericaciduria

•

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

•

en:increased urinary tiglylglycine

•

en:increased urinary thiosulfate

•

en:increased urinary ketones

•

en:increased serum total cholesterol

•

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

•

en:increased serum parathyroid hormone (pth)

•

en:increased serum glutamine

•

en:increased plasma phytanic acid

•

en:increased igg level

•

en:increased csf protein during acute illness

•

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

•

en:normal serum bile acids

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

en:normal serum plasmalogen

•

en:serum iron low (finding)

•

en:4-hydroxyphenylactic aciduria

•

en:igg, elevated

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:variable defects of inner dynein arms

•

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

•

en:urinary prostaglandin e

•

en:urinary excretion of mucopolysaccharides

•

en:type iii collagen defect

•

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

•

en:thyroid peroxidase defect

•

en:structural abnormalities seen on chromosome analysis

•

en:serum corticosterone increased

•

en:normocalcemia

•

en:routine liver function tests normal

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:pseudohypertriglyceridemia in adult form

•

en:positive kveim-siltzbach skin test

•

en:poor mitogenic response to growth factors

•

en:polycythemia

•

en:plasma catecholamines decreased

•

en:phytanic acid increased

•

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

•

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

•

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

•

en:igm deficiency

•

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

•

en:iga antiendomysial antibodies (ema)

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

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

•

en:decreased triiodothyronine level

•

en:decreased serum iga

•

en:decreased serum ferritin

•

en:decreased serum complement factor h

•

en:decreased plasma triglycerides

•

en:decreased or normal serum c3

•

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

•

en:decreased or absent serum citrulline

•

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

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

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

•

en:cytoplasmic lamellar concentric inclusions

•

en:creatine kinase levels may normalize with disease progression

•

en:complex organic aciduria

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:antiribonuclear protein positive

•

en:anti-ds dna antibody

•

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

•

en:aberrant gamma-interferon-mediated inflammation

•

en:4-hydroxyphenylacetic aciduria

•

en:abetalipoproteinemia (lab finding)

•

en:deficiency of creatine phosphate in brain

•

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

•

en:hypokalemia occurs during paralytic attacks

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:hypocalcemia (male)

•

en:hypermethioninemia, progressive

•

en:hyperlipoproteinemia type iib

•

en:hyperhomocystinemia

•

en:hyperglycinuria (disorder)

•

en:hypergammaglobulinemia

•

en:hypercholesterolemia (10%)

•

en:hypercalciuria

•

en:holocarboxylase synthetase deficiency

•

en:high ornithine

•

en:hepatic argininosuccinase deficiency

•

en:exercise-induced myoglobinuria in adults

•

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

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:elevated urinary 3-methylglutaconate

•

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

•

en:elevated testosterone

•

en:elevated sweat chloride

•

en:elevated plasma propionylcarnitine

•

en:elevated plasma and urine succinylacetone

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated mchc

•

en:elevated inflammatory markers

•

en:elevated erythrocyte adenosine deaminase

•

en:abacterial leukocyturia

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

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

•

en:increased urinary taurine

•

en:normal apoa-ii levels in homozygotes

•

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

•

en:myoglobinuria with extreme exertion

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

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

•

en:liver function tests normal

•

en:ketonuria (1 patient)

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary succinic acid

•

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

•

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

•

en:increased urinary l-glycerate

•

en:increased urinary isobutyryl glycine

•

en:increased urinary excretion of cystine

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum deoxyuridine

•

en:increased plasma proinsulin

•

en:increased plasma branched-chain fatty acids

•

en:normal lysl hydroxylase activity

•

en:normal or increased serum phosphate

•

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

•

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

•

en:vitamin b12 deficiency (uncommon)

•

en:variable respiratory chain enzyme deficiency

•

en:urine uric acid decreased

•

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

•

en:thyroid dyshormonogenesis 3

•

en:slightly increased serum alkaline phosphatase may occur

•

en:serum triglycerides normal

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:serum thyroxine may be decreased or normal

•

en:serum gastrin increased

•

en:serum calcium elevated

•

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

•

en:normal transferrin isoelectric profile

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:proper antibody response to protein vaccinations

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:positive antinuclear antibody test

•

en:pms show deficient oxidation of debrisoquine

•

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

•

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

•

en:pipecolic acid accumulation.

•

en:phosphaturia

•

en:abnormal isoelectric focusing of serum transferrin

•

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

•

en:normal urinary cyclic amp response to pth administration

•

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

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:increased gamma-interferon

•

en:decreased c3 activity

•

en:disorganized growth plate cartilage

•

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

•

en:defects in mitochondrial oxidative phosphorylation

•

en:decreased serum levels of maoa products

•

en:decreased serum haptoglobin (in some patients)

•

en:decreased serum factor i (atypical hus)

•

en:decreased serum b12 levels

•

en:decreased phgdh activity (fibroblasts)

•

en:decreased levels of serum vitamin b12

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased ciliary motility

•

en:decreased beta-galactosidase activity

•

en:electrolyturia (1 patient)

•

en:decreased activity of galactocerebrosidase

•

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

•

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

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:citrullinemia

•

en:chronic hypercapnia

•

en:aminoaciduria (less common)

•

en:alkaline phosphatase normal

•

en:absent dystrophin on muscle biopsy

•

en:absent axonal flare response to intradermal histamine injection

•

en:absent anti-insulin receptor antibodies

•

en:increased csf lactate

•

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

•

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

•

en:elevated alkaline phosphatase of bone origin

•

en:high sister chromatid exchange (sce) rate

•

en:increased cellular sensitivity to uv light

•

en:elevated ast and ldh, especially infantile-onset

•

en:increased 18-ohb to aldosterone ratio

•

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

•

en:iiga and igg antigliadin antibodies (aga)

•

en:igg deficiency

•

en:hypocalcemia (64% of adults)

•

en:hyperinsulinemia

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:hydrocortisone decreased

•

en:homocysteinemia (in some patients)

•

en:hyperlipoproteinemia type i

•

en:hematuria (less common)

•

en:ethylmalonic aciduria

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:elevated total iron-binding capacity

•

en:elevated urinary delta-aminolevulinic acid

•

en:elevated urine unsulfated chondroitin sulfate

•

en:elevated plasma alloisoleucine

•

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

•

en:galactosylation defects

•

en:globulin gamma serum plasma increased result

•

en:glucose-6-phosphate deficiency

•

en:glycoamino aciduria

•

en:gm2-ganglioside accumulation

•

en:increased serum pyruvate

•

en:increased tissue levels of triglycerides

•

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

•

en:increased urinary cross-linked n-telopetide of type i collagen

•

en:increased urinary organic acids (in some patients)

•

en:increased urine oligosaccharides

•

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

•

en:intermittent severe hypoglycemia (in some patients)

•

en:lactic acidemia

•

en:low cholesterol esterification rates

•

en:low or absent iga levels

•

en:molybdenum cofactor deficiency

•

en:marked hypobetalipoproteinemia

•

en:increased serum lipoproteins

•

en:increased serum methionine (reported in 2 cases)

•

en:hypouricemia

•

en:increased serum lactate during metabolic crisis

•

en:incomplete n-glycosylation of cellular proteins

•

en:neutropenia

•

en:hypocholesterolemia

•

en:hypogammaglobulinemia, profound

•

en:hypokalemia during periodic paralysis (most patients)

•

en:hypoxia

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:increased prevalence among the native american lumbee indians

•

en:increased biliverdin in bodily fluids

•

en:increased csf protein

•

en:increased erythrocyte sedimentation rate, episodic

•

en:increased interferon-alpha signal

•

en:increased levels of carcinoembryonic antigen

•

en:increased plasma pipecolic acid

•

en:myoglobinuria after exertion

•

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

•

en:normal baseline cortisol

•

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

•

en:vitamin k deficiency

•

en:variable hyperlipidemia

•

en:urine cortisol, increased

•

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

•

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

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

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

•

en:t cells may be increased or decreased

•

en:tyrosine iodination defect

•

en:tryptophanuria

•

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

•

en:translocation of chromosomes 9 and 13

•

en:transient neonatal hypocalcemia (2p21del)

•

en:t-cell deficit

•

en:serum mitochondrial autoantibodies

•

en:normal cerebrospinal fluid

•

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

•

en:normal csf neurotransmitters

•

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

•

en:normal lysyl hydroxylase activity

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:normal to slightly elevated plasma cholesterol

•

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

•

en:partial deficiency of factor xii(c)

•

en:serum c-reactive protein may be increased

•

en:platelet antibody positive

•

en:platelet factor 4 decreased

•

en:pregnant mothers of affected children have decreased plasma and urinary estrogen

•

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

•

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

•

en:serum bilirubin increased

•

en:hyperglycolic aciduria

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845294 • caches: c1=50 c2=1803 c3=195

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