Le Diko - en:decreased lecithin:cholesterol acyltransferase mass and activity

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Le Diko - en:decreased lecithin:cholesterol acyltransferase mass and activity

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le dictionnaire d'associations lexicales
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en:decreased lecithin:cholesterol acyltransferase mass and activity

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:variable hyperlipidemia

•

en:serum growth hormone increased

•

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

•

en:absent ch50 activity in complete c4 deficiency

•

en:antithrombin iii deficiency

•

en:decreased testosterone level

•

en:elevated serum transferrin saturation

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:increased lactate: pyruvate ratio (group b)

•

en:serum folate normal

•

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

•

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

•

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

•

en:elevated plasma levels of lp(a)

•

en:increased serum thymidine

•

en:neonatal hyperbilirubinemia

•

en:normal plasma phytanic acid

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:serum and csf lactate may be increased

•

en:decreased tissue total and free carnitine

•

en:karyotype analysis normal finding

•

en:phosphate normal

•

en:partial deficiency of factor xiii(c)

•

en:normal complex ii activity

•

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

•

en:absence of outer dynein arms

•

en:increased serum arylsulfatase a.

•

en:increased plasma and urinary pipecolic acid

•

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

•

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

•

en:abnormal cardiolipin subspecies composition

•

en:polycythemia

•

en:platelet count normal

•

en:hyperkalemia during attacks

•

en:antineutrophil antibody positivity

•

en:mitochondrial malic enzyme reduced

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:decreased mitochondrial complex iii activity in muscle

•

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

•

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

•

en:serum pristanic acid increased

•

en:normal serum cobalamin (vitamin b12)

•

en:mild-moderate prolonged bleeding time

•

•

en:hypertriglyceridemia

•

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

•

en:elevated erythrocyte aicar (zmp)

•

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

•

en:low leukocyte alkaline phosphatase activity

•

en:decreased levels of serum vitamin b12

•

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

•

en:pipecolic acidemia

•

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

•

en:increased tissue levels of free fatty acids

•

en:increased soluble il2 receptor

•

en:hypoketotic hypoglycemia

•

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

•

en:cd4/cd8 ratio decreased

•

en:decreased or absent steroid sulfatase activity

•

en:deletion of chromosome 18p11.2

•

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

•

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

•

en:homozygous 122kb deletion 11p15-p14

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

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

•

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

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:iron overload (in some patients)

•

en:interstitial or terminal deletion of 18q

•

en:increased urinary neopterin

•

en:increased serum bile acids

•

en:increased serum lactate

•

en:normal urinary orotic acid

•

en:normal serum plasmalogen

•

en:markedly reduced iga levels

•

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

•

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

•

en:hepatic glycine cleavage defect

•

en:impaired n-glycosylation

•

en:hyperbilirubinemia

•

en:high sweat electrolyte

•

en:high plasma citrulline (100-300 micromolar)

•

en:high ornithine

•

en:protein urine absent

•

en:no chromosome breakage

•

en:no mucopolysacchariduria

•

en:sce normal in heterozygotes

•

en:increased serum and csf glycine

•

en:serum bicarbonate increased

•

en:thyroid hormone organification defect

•

en:normal apoa-ii levels in homozygotes

•

en:mild to moderate hyperammonemia

•

en:low plasma free and total carnitine

•

en:low csf creatine

•

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

•

en:galactosylation defects

•

en:elevated sweat chloride (some)

•

en:defective mitochondrial respiratory enzyme activity

•

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

•

en:aldosterone level increased above normal

•

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

•

en:increased serum cholesterol (in 3 of 10 patients)

•

en:methylsuccinic aciduria

•

en:methemoglobinemia

•

en:low serum levels of branched-chain amino acids

•

en:intracellular accumulation of unesterified cholesterol

•

en:increased serum lactate hydrogenase

•

en:agammaglobulinemia

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:elevated pth (parathyroid hormone)

•

en:elevated plasma ornithine (~10-fold)

•

en:decreased circulating cortisol level

•

en:decreased cerebrospinal fluid folic acid

•

en:decreased adiponectin

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:mildly prolonged bleeding time 10-12 minutes

•

en:partial deficiency of factor xi(c)

•

en:positive kveim-siltzbach skin test

•

en:hyponatremic dehydration, rarely

•

en:transient eosinophilia in first decade

•

en:prolonged partial thromboplastin time (ptt)

•

en:normal to slightly elevated plasma cholesterol

•

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

•

en:increased ige level

•

en:very low igg

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:decrease plasma serine (fasting)

•

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

•

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

•

en:3-methylglutaconic aciduria

•

en:tyrosine loss

•

en:hyperkalemia

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:increased serum lactate (patient a)

•

en:increased serum and urinary lactate

•

en:increased il18

•

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

•

en:hypokalemia occurs during paralytic attacks

•

en:decreased telomerase activity

•

en:farber lipogranulomatosis

•

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

•

en:direct hyperbilirubinemia

•

en:decreased hepatic gaba transaminase activity

•

en:abnormal n-glycosylation of transferrin

•

en:low or normal serum calcium

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:defective (ca2+) mobilization in t cells

•

en:low urinary cyclic amp response to pth administration

•

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

•

en:normal urinary cyclic amp response to pth administration

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:increased urinary 3-methylglutaconic acid

•

en:increased csf pyruvic acid

•

en:increased csf interferon

•

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

•

en:methylmalonic aciduria, mild

•

en:elevated creatine kinase (in some patients)

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:prolidase deficiency

•

en:no evidence of intrauterine infection in mother or newborn

•

en:serum acid phosphatase normal

•

en:decreased ubiquinone-10

•

en:elevated calcitonin

•

en:increased urinary sulfite

•

•

en:low maximal oxygen uptake on exercise testing

•

en:normal sedimentation rate

•

en:phosphaturia (in some)

•

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

•

en:variable defects of inner dynein arms

•

en:decreased phgdh activity (fibroblasts)

•

en:disseminated intravascular coagulation

•

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

•

en:normal or mildly reduced sphingomyelinase activity

•

en:saposin a deficiency (finding)

•

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

•

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

•

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

•

en:defective bile acid metabolism

•

en:decreased glomerular filtration rate (gfr)

•

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

•

en:decreased serum factor h (atypical hus)

•

en:isovalericaciduria

•

en:increased serum alanine (1 patient)

•

en:increased csf immunoglobulin levels

•

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

•

en:elevated serum parathyroid hormone (pth)

•

en:disorganized growth plate cartilage

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:globulin gamma serum plasma increased result

•

en:normal urinary pterins

•

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

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:secondary decreases in complex i and iv activity

•

en:no evidence of common prenatal infections

•

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

•

en:normal igg levels

•

en:increased serum creatine kinase (patient a)

•

en:increased plasma vldl, ldl

•

en:incomplete n-glycosylation of cellular proteins

•

en:hypoalphalipoproteinemia

•

en:gm2-ganglioside accumulation

•

en:mitochondrial malonyl-coa decarboxylase activity in fibroblasts is very low (as low as 4%)

•

en:methionine adenosyltransferase deficiency

•

en:mildly decreased serum creatinine

•

en:mildly elevated hepatic enzymes

•

en:mild hypertriglyceridemia

•

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

•

en:monoclonal gammopathy

•

en:myoglobinuria

•

en:myoglobinuria after exertion (in some patients)

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

en:lysosomal-like storage vacuoles in various tissues

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:ketonuria, acute

•

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

•

en:low to normal plasma methionine

•

en:low or absent igm levels

•

en:low csf creatinine

•

en:low absolute lymphocyte count

•

en:urinary excretion of mucopolysaccharides

•

en:keratan sulfaturia in some patients

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:increased urinary sulfatides

•

en:increased urinary sialylglycopeptides

•

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

•

en:increased urinary homovanillic acid (hva)

•

en:increased total and conjugated bilirubin

•

en:neutropenia (in 1 patient)

•

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

•

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

•

en:serum complement decreased

•

en:increased serum pyruvate, mild

•

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

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

en:undetectable urinary hypoxanthine

•

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

•

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

•

en:thyroid dyshormonogenesis 4

•

en:systemic amyloidosis may occur

•

en:sterol 27-hydroxylase deficiency

•

en:shortened metaphase

•

en:serum creatinine raised

•

en:serum ammonia increased

•

en:normal aldosterone

•

en:reduced erythrocyte gs activity

•

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

•

en:pyruvic acidemia

•

en:prolonged bleeding time

•

en:platelet function test normal

•

en:platelet aggregation decreased

•

en:pcs involves most of all chromosomes of a metaphase

•

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

•

en:no increased sensitivity to oxidative species

•

en:normocalcemia

•

en:normal leukocyte and platelet counts

•

en:normal isoelectric focusing of serum transferrin

•

en:increased serum uric acid

•

en:dicarboxylic aciduria

•

en:increased serum c-reactive protein, episodic

•

en:decreased csf folate

•

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

•

en:decreased serum acth

•

en:decreased scad activity

•

en:decreased plasma triglycerides

•

en:decreased plasma apolipoprotein c-ii

•

en:decreased or absent serum and urinary chenodeoxycholic acid and cholic acid

•

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

•

en:decreased methylmalonyl-coa mutase activity

•

en:decreased levels of cpt2 protein

•

en:decreased ldl cholesterol

•

en:decreased hdl cholesterol

•

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

•

en:deficiency of creatine phosphate in brain

•

en:chronic hypercapnia

•

en:chromosome 11q23.3 deletion

•

en:aneuploidy of the x chromosome

•

en:aminoaciduria (rare)

•

en:aminoaciduria, mild (in some patients)

•

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

•

en:absent platelet agglutination in presence of ristocetin

•

en:absent axonal flare response after intradermal histamine injection

•

en:abnormal serum transferrin pattern (in some patients)

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:4-hydroxyphenylacetic aciduria

•

en:very low igm

•

en:defective dna repair

•

en:deficiency of fructokinase

•

en:increased serum acyl carnitines

•

en:high serum osmolality

•

en:increased renal tubular phosphate reabsorption

•

en:increased nasal-potential difference (some)

•

en:increased il-6

•

en:increased disialo- and asialotransferrin

•

en:increased c10:2-carnitine

•

en:increased ammonia with exercise

•

en:iga antiendomysial antibodies (ema)

•

en:hyperuricemia

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:hypercholesterolemia (10%)

•

en:hyperchloremia (mean 111 mm)

•

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

•

en:elevated afp (endodermal sinus tumor)

•

en:hawkinsinuria

•

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:factor viii deficiency

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:elevated sweat chloride

•

en:elevated serum phosphorus

•

en:elevated pregnenolone

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated gamma-glutamyltransferase (ggt)

•

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

•

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

•

en:decreased urinary excretion of uromodulin

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:increased serum deoxyuridine

•

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

•

en:low serum igg and iga

•

en:low serum alpha-fetoprotein (recessive)

•

en:low or absent iga levels

•

en:ketonuria (1 patient)

•

en:increased urinary sulfatide excretion

•

en:increased urinary propionyl glycine

•

en:increased urinary hga

•

en:increased urinary glycerol

•

en:increased urinary excretion of cystine

•

en:increased serum unconjugated bilirubin

•

en:increased serum citrulline (group b)

•

en:medium chain dicarboxylic aciduria

•

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

•

en:increased serum and urinary 2-oxoglutarate

•

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

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased lysine in serum and csf

•

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

•

en:increased excretion of urobilinogen

•

en:increased csf protein

•

en:increased csf lactate

•

en:increased csf homovanillic acid (hva)

•

en:increased csf glycine

•

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

•

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

•

en:methylmalonic aciduria

•

en:impaired o-glycosylation

•

en:serum calcium elevated

•

en:lecithin acyltransferase deficiency

•

en:abnormal eeg in 25% hospitalized patients

•

en:variably increased serum creatine kinase

•

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

•

en:translocation of chromosomes 9 and 13

•

en:transcobalamin ii deficiency

•

en:shortened telomeres (1 patient)

•

en:severely decreased palmitate oxidation

•

en:serum mitochondrial autoantibodies

•

en:serum creatine kinase may be normal or increased

•

en:serum copper decreased

•

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

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:positive antinuclear antibody test

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

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

•

en:normal exocrine pancreatic function

•

en:normal csf neurotransmitters

•

en:normal concentration of parathyroid hormone

•

en:normal collagen type i studies

•

en:normal cerebrospinal fluid

•

en:nephrotic syndrome

•

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

•

en:mucopolysaccharidosis type iiid

•

en:increased circulating renin level

•

en:molybdenum cofactor deficiency

•

•

en:decreased c3 antigen

•

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

•

en:decreased or absent serum ceruloplasmin

•

en:decreased or absent histidase activity

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:decreased neopterin and biopterin in csf

•

en:decreased monoamine oxidase a activity

•

en:decreased metabolism of thiopurine drugs

•

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

•

en:decreased erythrocyte plasmalogen

•

en:decreased cytochrome c oxidase activity in skin fibroblasts, liver, and skeletal muscle

•

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

•

en:cilia may also be static, with slow activity

•

en:decreased red cell pyruvate kinase activity

•

en:chromosome deletion extending from 8q24.11 to 8q24.13

•

en:ceruloplasmin decreased

•

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

•

en:antithrombin iii decreased

•

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

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:aldolase a deficiency

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

en:absent igg2 subclass

•

en:abnormal urinary organic acids

•

en:hypouricemia

•

en:abnormal oral glucose tolerance

•

en:decreased plasma lpl levels (in some patients)

•

en:continuous urinary iodine loss

•

en:decreased serum and muscle coenzyme q

•

en:extremely low creatine excretion

•

en:hyposialylation of o-linked serum glycans

•

en:hypocalciuria

•

en:decreased serum ceruloplasmin

•

en:hypertryptophanemia

•

en:hyperinsulinemia

•

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

•

en:hyperarginemia

•

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

•

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

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

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

•

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

•

en:high serum inosine levels

•

en:deficiency of fat-soluble vitamins

•

en:ethylmalonic aciduria

•

en:epstein-barr viraemia

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

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

•

en:elevated androstenedione and testosterone

•

en:elevated acth

•

en:elevated 1,25(oh)2 d3

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:abnormal isoelectric focusing of serum transferrin

•

en:decreased serum rt3

•

en:decreased serum igm

•

en:increased urinary free sialic acid excretion (n-acetylneuraminic acid, 5-20x normal) enlarged lysosomal vacuoles in lymphocytes and fibroblasts

•

en:low serum alkaline phosphatase in heterozygotes

•

en:increased urinary citric acid cycle intermediates

•

en:increased urinary tiglylglycine

•

en:increased urinary acetoacetic acid

•

en:increased urinary n-acetylated amino acids

•

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

•

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

•

en:ketoses, metabolic

•

en:median mean platelet volume (mpv) 20fl

•

en:lactic acidemia (2p21del)

•

en:low-normal igm

•

en:low or undetectable insulin

•

en:increased serum vitamin b12

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased 18-hydroxycortisol

•

en:increased serum triiodothyronine (t3)

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased serum methionine

•

en:increased serum lactate (in some patients)

•

en:increased serum ferritin

•

en:increased platelet aggregation with ristocetin

•

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

•

en:increased free erythrocyte protoporphyrin

•

en:increased fibroblast free sialic acid

•

en:increased fas ligand

•

en:increased 18-oxocortisol

•

en:i-cell disease

•

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

•

en:mitochondrial deletions

•

en:hypogammaglobulinemia

•

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

•

en:serum corticosterone increased

•

en:normal blood lactate

•

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

•

en:skewed x-inactivation in females

•

en:hypergammaglobulinemia

•

en:severe hypernatremia in neonatal period

•

en:severely impaired ciliary motility

•

en:serum transaminase increased

•

en:serum thiamine is normal

•

en:serum creatine kinase may be increased

•

en:serum calcium normal

•

en:serum calcitonin, increased

•

en:serum c-peptide and glucagon levels measurable

•

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

•

en:reduced platelet glycoprotein ib complex

•

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

•

en:reduced erythrocyte adenosine deaminase activity

•

en:protein c decreased

•

en:normal extrarenal responses to ddavp administration

•

en:normal serum 25-hydroxyvitamin d3

•

en:normal iga levels

•

en:normal liver histology

•

en:normal lysosomal hydrolases

•

en:normal maltase, isomaltase, and sucrase activity

•

en:normal or decreased serum potassium

•

en:normal or mildly reduced serum cobalamin

•

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

•

en:prolonged prothrombin and partial thromboplastin times

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal to prolonged bleeding time

•

en:no hyperphenylalaninemia

•

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

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:presence of pc mrna

•

en:hyperlipidemia

•

en:aldosterone concentration below normal

•

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

•

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

•

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

•

en:decreased fbp1 enzyme activity

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:decreased beta-glucosidase protein and activity

•

en:decreased beta-galactosidase activity

•

en:decreased activity of the pdh phosphatase

•

en:decreased activity of mitochondrial respiratory complexes

•

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

•

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

•

en:d-2-hydroxyglutaric aciduria

•

en:creatine decreased

•

en:chromosome instability (hypo-/hyperdiploidy, chromosomal breaks, premature centromere division)

•

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

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:decreased mucosal alkaline phosphatase

•

en:aminoaciduria (in some patients)

•

en:alpha-fetoprotein normal

•

en:acute-phase reactants during fever

•

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

•

en:absent tyrosinase activity

•

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:absence of chylomicrons in lymph and plasma

•

en:abnormal serum liver enzyme levels

•

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

•

en:abnormal liver enzymes, episodic

•

en:abnormal fecal fat

•

en:3-methylglutaconic aciduria (3-mgc)

•

en:transaminitis

•

en:decreased levels of the e2 subunit protein

•

en:decreased or absent glycogen branching enzyme activity

•

en:homocysteinemia

•

en:elevated testosterone

•

en:high urinary orotic acid

•

en:hepatic argininosuccinase deficiency

•

en:hemophilia b

•

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

•

en:gonadotrophin increased

•

en:glyoxalase deficiency

•

en:glucosuria, mild, intermittent

•

en:gamma-glutamylcysteine synthetase (glutamate-cysteine ligase) deficiency

•

en:galactosemia

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:exercise-induced myoglobinuria in adults

•

en:eosinophilia, mild

•

en:elevated uric acid on urinalysis (in some patients)

•

en:elevated serum parathyroid hormone (pth) level

•

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

•

en:elevated 3-hydroxypropionic acid

•

en:decreased serum cholesterol (in some)

•

en:decreased serum haptoglobin

•

en:decreased serum iga

•

en:decreased serum luteinizing hormone (lh)

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

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

•

en:elevated crp

•

en:elevated serum lactate

•

en:elevated fasting glucose

•

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

•

en:elevated liver function tests

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated serum bile acids

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:subtelomeric deletion of chromosome 16p

•

en:hyperthreoninemia

•

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

•

en:increased serum lactate during metabolic crisis

•

en:low cholesterol esterification rates

•

en:low acth level

•

en:low-molecular-weight proteinuria

•

en:isochromosome often missing in lymphocyte

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary s-sulfocysteine

•

en:increased urinary malic acid

•

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

•

en:increased urinary and serum glycine

•

en:increased urinary adenosine

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased uric acid with exercise

•

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

•

en:increased serum thyrotropin

•

en:increased serum lactate, particularly after exercise

•

en:low serum uric acid

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum creatine kinase (1 family)

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased serum butyryl carnitine

•

en:increased serum bilirubin (in some patients)

•

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

•

en:increased serum alanine

•

en:increased plasma pipecolic acid

•

en:increased csf threonine

•

en:increased cholesterol

•

en:increased cellular sensitivity to uv light

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:hypomagnesemia

•

en:hypocalcemia (64% of adults)

•

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

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:hyperglycemias, postprandial

•

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

•

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

•

en:very low density lipoprotein increased

•

en:variable respiratory chain enzyme deficiency

•

•

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

•

en:thrombocytosis (in some patients)

•

en:some cilia show abnormal beating patterns or immotility

•

en:serum triglycerides normal

•

en:serum testosterone level normal

•

en:serum homocysteine normal

•

en:serum bilirubin increased

•

en:schirmer test shows alacrima

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:positive urinary bratton-marshall test

•

en:microduplication of chromosome 5p13

•

en:normal lactate (hcs)

•

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

•

en:mildly elevated acth

•

en:monomeric igm

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

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

•

en:normal free urinary cortisol

•

en:normal male karyotype (46,xy)

•

en:pipecolic acid accumulation.

•

en:no ketonuria

•

en:paraproteinemia

•

en:parathyroid hormone (pth) absent to low

•

en:partial deficiency of factor xiii (less common)

•

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

•

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

•

en:hyperlipoproteinemia type i

•

en:serum gastrin increased

•

en:hyperchloremia (mean 109 mm)

•

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

•

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

•

en:decreased long-chain fatty acid oxidation

•

en:decreased iga, igg, igm

•

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

•

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

•

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

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:decreased adenosylcobalamin

•

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

•

en:cystathionine beta-synthase deficiency disease

•

en:cholesterol normal

•

en:cerebrospinal fluid lymphocytosis

•

en:cellular arrest at g2 of the cell cycle

•

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

•

en:decreased or increased serum testosterone

•

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

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

•

en:alanine aminotransferase increased

•

en:acute hyperammonemia

•

en:absent pro alpha 2(i) chain synthesis (fibroblasts)

•

en:absence of hepatic udp-glucuronyl-transferase

•

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

•

en:abacterial leukocyturia

•

en:4-hydroxyphenylpyruvic aciduria

•

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

•

en:variable hypoglycemia

•

en:hypercalciuria (in childhood)

•

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

•

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

•

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

•

en:decreased plasma serine

•

en:elevated plasma estrogen

•

en:high plasma asparagine

•

en:homocitrullinuria

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:hematuria, gross and microscopic

•

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

•

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

•

en:gamma-glutamylcysteine deficiency

•

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

•

en:fibrinogen decreased

•

en:factor vii deficiency

•

en:elevated total bilirubin

•

en:elevated serum transaminase levels

•

en:elevated plasma stigmasterol

•

en:elevated plasma galactose (galactosemia)

•

en:generalized aminoaciduria

•

en:elevated plasma acth

•

en:deficiency or absence of p91-phox protein

•

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

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased von willebrand factor

•

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

•

en:decreased udp-glcnac

•

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

•

en:deficiency of laminin in basement membranes

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:elevated csf glycine

•

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

•

en:decreased s-ado:saicar ratio

•

en:electrolyturia (1 patient)

•

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

•

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

•

en:increased urinary 3-oh-butyric acid

•

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

•

en:increased urinary magnesium

•

en:increased urinary oligosaccharides

•

•

en:increased urinary orotic acid (in some patients)

•

en:lactate dehydrogenase increased

•

en:irregularly shaped sperm heads

•

•

en:lack of excessive parenchymal iron storage

•

en:increased urinary 2-hydroxybutyrate

•

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

•

en:increased uric acid level

•

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

•

en:increased serum growth hormone levels

•

en:increased serum glutamine

•

en:increased serum creatine kinase (less common)

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased plasma free cholesterol

•

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 di- and asialo-transferrin

•

en:long-chain dicarboxylic aciduria

•

en:increased csf transferrin despite normal serum transferrin levels

•

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

•

en:liver phosphorylase kinase (phk) deficiency

•

en:pentagastrin stimulation test

•

en:low cd4+ count

•

en:plasma aldosterone normal

•

en:undetectable norepinephrine (noradrenaline) in plasma, urine, csf

•

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

•

en:thymic hormone decreased

•

en:thrombocytopenia

•

en:t-lymphocytopenia

•

en:sialylation defects

•

en:serum creatine kinase may be normal or elevated

•

en:serum chloride level decreased (finding)

•

en:serum albumin low result

•

en:secondary decrease of plasma free carnitine

•

en:pseudohypertriglyceridemia in adult form

•

en:plasma triglycerides increased

•

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

•

en:low or absent adrenocorticotropic hormone (acth) in some patients

•

en:orotic aciduria

•

en:oestradiol decreased

•

en:no elevation of free fatty acids

•

en:normal to elevated total plasma carnitine

•

en:normal parathyroid hormone (female)

•

en:normal lysyl oxidase activity

•

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

•

en:neonatal hypocalcemia

•

en:myoglobinuria (reported in 1 patient)

•

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

•

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

•

en:low total serum protein

•

en:increased alpha-fetoprotein (1 patient)

•

en:decreased triiodothyronine level

•

en:impaired oxidation of pyruvate

•

en:chylomicronemia, refractory fasting

•

en:defect in n- and o-glycosylation

•

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

•

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

•

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

•

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

•

en:decreased fibroblast iduronate sulfatase

•

en:decreased eno3 activity

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

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

•

en:decreased activity of galactocerebrosidase

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

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

•

en:blood urea nitrogen increased

•

en:dyskinetic ciliary motility

•

en:blood glucose normal

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

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

•

en:alpha fetoprotein increased

•

•

en:adenylosuccinase deficiency (finding)

•

en:absent alkyl-dhap synthase activity

•

en:abnormal liver function tests (less common)

•

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

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:abnormal dystrophin on muscle biopsy

•

en:2-aminoadipic aciduria

•

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

•

en:electrolyte disturbances from intractable diarrhea

•

en:immotile or weakly motile cilia

•

en:fragmentation of the mitochondrial network

•

en:hypoglycemia, fasting

•

en:hypocalcemia (male)

•

en:hypoalbuminemia (in 83%)

•

en:hyperprolinemia (5-10 times normal)

•

en:hyperglycinuria (disorder)

•

en:hyperglycinemia

•

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

•

en:hyperammonemia after protein intake

•

en:hyperammonemia

•

en:hereditary factor x deficiency

•

en:hematuria, macroscopic and microscopic

•

en:generalized amyloid deposition

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:electron microscopy of foam cells shows lamellar inclusions

•

en:elevated white blood cell cystine

•

en:elevated urine ceramide levels

•

en:elevated urinary ornithine, lysine, arginine

•

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

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

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

•

en:elevated serum iron

•

en:elevated plasma propionylcarnitine

•

en:elevated plasma cholestanol

•

en:elevated plasma and urine succinylacetone

•

en:elevated hcg (choriocarcinoma)

•

en:electroretinogram is abnormal--rod responses are mildly abnormal and cone responses are markedly diminished

•

en:vitamin b12 deficiency (in some patients)

•

en:elevated il6

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:low serum acth

•

en:low or absent luteinizing hormone (lh)

•

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

•

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

•

en:long-chain ketonuria

•

•

en:intermittent ethylmalonic aciduria

•

en:increased urinary tricarboxylic acid intermediates

•

en:increased urinary methylcitrate

•

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

•

en:increased urinary carnitine esters

•

en:increased urinary 2-ketoglutarate (variable)

•

en:abnormal liver function tests (in some patients)

•

en:increased susceptibility to ebv infection

•

en:increased serum triglycerides (in some patients)

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum iduronate sulfatase

•

en:increased serum gamma-ggt (231950)

•

en:increased serum, urinary, and csf lysine

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased prevalence among the native american lumbee indians

•

en:increased plasma proinsulin

•

en:increased il1b increased soluble il2r

•

en:increased histidine in blood, urine, and csf

•

en:increased ferritin

•

en:markedly reduced igg levels

•

en:microsomal hmg-coa reductase decreased

•

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

•

en:platelet antibody positive

•

en:urine cortisol, increased

•

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

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum cortisol decreased

•

en:serum cholesterol raised

•

en:renin decreased

•

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

•

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

•

en:reduced beating amplitudes in cilia

•

en:protein total decreased

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:platelet factor 4 decreased

•

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

•

en:mild elevation of triglycerides

•

en:pancreatic trypsinogen deficiency

•

en:no lactic acidosis

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:normal tyrosinase

•

en:normal transferrin isoelectric profile

•

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

•

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

•

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

•

en:myelin basic protein measurement, spinal fluid

•

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

•

en:mitochondrial complex i deficiency in muscle

•

en:mild hyperammonemia

•

en:increased erythrocyte sedimentation rate, episodic

•

en:metachromasia of white blood cells and fibroblasts

•

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

•

en:complex organic aciduria

•

en:decreased serum factor i (atypical hus)

•

en:decreased serum cobalamin

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased or absent ciliary motility

•

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

•

en:decreased fibroblast alpha-mannosidase

•

en:decreased dermal hydroxylysine content

•

en:decreased csf hypocretin

•

en:decreased csf ferritin despite normal serum ferritin levels

•

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

•

en:decreased activity of mitochondrial complex i

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:decreased serum haptoglobin (in some patients)

•

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

•

en:cd4+/cd8+ ratio often reversed

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:bicarbonaturia

•

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

•

en:antiphospholipid antibody

•

en:aminoaciduria, intermittent

•

en:alkaline phosphatase normal

•

en:absent or severely reduced levels of serum immunoglobulins

•

en:absence of peroxidase staining in neutrophils and monocytes

•

en:abnormal nasal potential difference

•

en:igg deficiency

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:decreased activity of nadph oxidase

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:exercise-induced myoglobinuria

•

en:hypoproteinemia (in 1 patient)

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:hypoalbuminemia

•

en:hyperprolinemia type 1

•

en:hyperlysinemia

•

en:hyperkalemia (>6.2 mm in both dominant and recessive)

•

en:hyperglycinemia (1 patient)

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:glycoamino aciduria

•

en:glutaric acidemia type 1

•

en:fasting chylomicronemia

•

en:heparin cofactor ii deficiency (disorder)

•

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

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:decreased tetrasialotransferrin levels

•

en:elevated urinary delta-aminolevulinic acid

•

en:decreased uros activity (1 patient)

•

en:deficient fibroblast aicar-tf activity

•

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

•

en:decreased transferrin increased serum iron

•

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

•

en:elevated sed rate

•

en:elevated serum protein

•

en:elevated total iron-binding capacity

•

en:elevated plasma phytanic acid

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary isobutyryl glycine

•

en:incresased urinary pyruvate

•

en:inner and outer dynein arm defects, variable

•

en:lactic acidemia

•

en:iron binding capacity total increased

•

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

•

en:lactic acidosis

•

en:liver transaminases normal to slightly increased

•

en:low apolipoprotein

•

en:increased tissue levels of triglycerides

•

en:increased urinary 7-biopterin (primapterin)

•

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

•

en:increased sodium-potassium pump activity

•

en:increased serum serotonin in 25%

•

en:increased serum lipoproteins

•

en:increased serum lactate in acute stage

•

en:increased serum glycerol

•

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

•

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

•

en:increased serum alkaline phosphatase (in some patients)

•

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

•

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

•

en:increased interferon-alpha signal

•

en:increased gamma-interferon

•

en:low plasma methionine

•

en:low ldl cholesterol

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

en:low plasma tryptophan (inflammatory type b)

•

en:rheumatoid factor negative

•

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

•

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

•

en:uric acid normal

•

en:transient neonatal hypocalcemia (2p21del)

•

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

•

en:thyroid dyshormonogenesis 5

•

en:spongy degeneration of brain on histology

•

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

•

en:slightly increased serum alkaline phosphatase may occur

•

en:serum phosphate concentration below normal

•

en:serum ferritin hyperglycosylation

•

en:serum aldosterone elevated

•

en:reduced erythrocyte glucose/hexose transport

•

en:low to normal serum calcium

•

en:pyruvate-induced insulin secretion

•

•

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

•

en:persistent ebv viremia

•

en:partial deficiency of factor xii(c)

•

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

•

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

•

en:normal to increased plasma glycine

•

en:normal serum lipoprotein levels

•

en:mildly elevated creatine phosphokinase

•

en:methylglutaconic aciduria, mild

•

en:mean platelet volume (mpv) 12.6fl

•

en:markedly increased serum creatine kinase

•

en:increased creatine kinase (ck)

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846541 • caches: c1=8 c2=1003 c3=1

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