Le Diko - en:decreased or absent apolipoprotein a-i

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Le Diko - en:decreased or absent apolipoprotein a-i

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le dictionnaire d'associations lexicales
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en:decreased or absent apolipoprotein a-i

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:serum thyroxine may be decreased or normal

•

en:lower total cholesterol

•

en:protein total decreased

•

en:antithrombin iii deficiency

•

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

•

en:elevated 3-hydroxypropionic acid

•

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

•

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

•

en:heparan sulfate excretion in urine

•

en:hyperglycemia

•

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

•

en:increased serum methionine

•

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

•

en:low or absent growth hormone (gh)

•

en:4-hydroxyphenylactic aciduria

•

en:decreased plasma gonadotrophin

•

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

•

en:increased urinary dicarboxylic acid, transient

•

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

•

en:normal apoa-ii levels in homozygotes

•

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

•

en:parathyroid hormone normal

•

en:postprandial hyperglycemia (early in disease course)

•

en:presence of pc mrna

•

en:hypermethioninemia, progressive

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

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

•

en:low or normal serum calcium

•

en:intermittent increase of urinary ethylmalonic acid

•

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

•

en:hereditary factor x deficiency

•

en:glucosuria, mild, intermittent

•

en:elevated sweat chloride

•

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

•

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

•

en:decreased apoa-i and apoa-ii

•

en:some cilia show central complex and radial spoke defects

•

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

•

en:decreased levels of plasma vwf antigen

•

en:increased serum triglycerides (in some patients)

•

en:serum folate low

•

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

•

•

en:no lactic acidosis

•

en:low serum calcium

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:increased serum alkaline phosphatase (in some patients)

•

en:hyperarginemia

•

en:hereditary angioedema

•

en:vitamin k deficiency

•

en:hepatic lipase deficiency (disorder)

•

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

•

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

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:increased csf lactate during acute episodes

•

en:increased di- and asialo-transferrin

•

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

•

en:low or absent prolactin (pl)

•

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

•

en:normal serum complement levels

•

en:normal serum liver enzymes

•

en:serum thiamine is normal

•

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

•

en:leukocytosis

•

en:low free carnitine

•

en:mild-moderate prolonged bleeding time

•

en:molybdenum cofactor deficiency

•

en:partial deficiency of factor xii(c)

•

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

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:increased serum pyruvate in acute stage

•

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

•

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

•

en:abnormal nasal potential difference

•

en:serum albumin low result

•

en:sce normal in heterozygotes

•

en:peroxisome deficiency

•

•

en:low serum levels of branched-chain amino acids

•

en:increased serum thrombopoietin may occur

•

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

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:amylo-1,6-glucosidase deficiency

•

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

•

en:creatine kinase levels may normalize with disease progression

•

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

•

en:decreased palmitate oxidation

•

en:large spermatozoa

•

en:decreased plasminogen antigen

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:t-cell deficit

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:phosphaturia

•

en:lactic acidemia

•

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

•

en:increased urinary 3-methylglutaconic acid

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:decreased udp-glcnac

•

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

•

en:ballooned neurons

•

en:cd4/cd8 ratio decreased

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:elevated pth (parathyroid hormone)

•

en:increased pristanic acid

•

en:increased total and conjugated bilirubin

•

en:increased urinary mannose-containing oligosaccharides

•

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

•

en:methylmalonic aciduria, mild

•

en:elevated plasma galactose (galactosemia)

•

en:serum prolactin decreased

•

en:increased serum gm-csf

•

en:high ebv viral load

•

en:pancreatic trypsinogen deficiency

•

en:elevated leukotriene e(4)

•

en:cortisol does not decrease on dexamethasone suppression test

•

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

•

en:urocanase deficiency

•

en:abnormal transferrin isoelectric focusing (ief)

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:hyperprolinemia (5-10 times normal)

•

en:mildly decreased serum creatinine

•

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

•

en:presence of vacuoles on muscle biopsy

•

en:proteinuria (type ii, congenital)

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

en:2-aminoadipic aciduria

•

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

•

en:elevated plasma phytanic acid

•

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

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:hypertriglyceridemia (in some patients)

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:resistance to activated protein c due to factor v leiden

•

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

•

en:hyperammonemia

•

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

•

en:low fasting glucose (in some patients)

•

en:increased pyruvate in serum and csf

•

en:sterol 27-hydroxylase deficiency

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

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

•

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

•

en:absent ch50 activity in complete c4 deficiency

•

en:pcs involves most of all chromosomes of a metaphase

•

en:high newborn serum levels of immunoreactive trypsinogen

•

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

•

en:increased urinary 7-biopterin (primapterin)

•

en:decreased beta-thromboglobulin

•

en:serum gastrin increased

•

en:normal axonal flare response after intradermal histamine injection

•

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

•

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

•

en:hypoprebetalipoproteinemia

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

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

•

en:decreased serum 25-hydroxyvitamin d

•

en:defect in chylomicron secretion

•

en:low leukocyte alkaline phosphatase activity

•

en:creatine kinase normal between episodes

•

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

•

en:decreased serum iron (in some patients)

•

en:decreased serum vitamin a

•

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

•

en:increased serum and urinary lactate

•

en:serum bicarbonate increased

•

en:abnormal liver function tests (in some patients)

•

en:aminoaciduria (less common)

•

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

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:factor vii deficiency

•

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

•

en:low or absent luteinizing hormone (lh)

•

en:no evidence of perinatal infection

•

en:occasional hypomagnesemia

•

en:tryptophanuria

•

en:increased urinary prostaglandin e2

•

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

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased urinary acetoacetic acid

•

en:increased urinary glutaric acid

•

en:hypoproteinemia due to hypercatabolism

•

en:increased urinary sulfite

•

en:increased urine porphyrins at times

•

•

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

•

•

en:low or absent thyrotropin (tsh)

•

en:increased thymine and dihydrothymine in bodily fluids

•

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

•

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

•

en:increased serum lactate

•

en:increased serum creatine kinase in patients with muscle involvement

•

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

•

en:increased serum and csf lactate

•

en:increased serum alpha-mannosidase

•

en:increased plasma long-chain acylcarnitines

•

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

•

en:increased csf taurine

•

en:increased creatinine

•

en:increased biopterin in urine and csf

•

en:increased ammonia with exercise

•

en:impaired oxidation of pyruvate

•

en:igm deficiency

•

en:low urinary cyclic amp response to pth administration

•

en:low plasma hdl

•

en:no chromosome breakage

•

en:microscopic hematuria

•

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

•

en:serum cortisol elevated

•

en:serum c-peptide and glucagon levels measurable

•

en:serum alkaline phosphatase normal or mildly increased

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:saccharopine dehydrogenase deficiency

•

en:rhabdomyolysis in response to alcohol

•

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

•

en:reduced ferrochelatase activity

•

en:pyruvic acidemia

•

en:protein c decreased

•

en:prominent leukocytosis (30,000/ml)

•

en:platelet aggregation decreased

•

en:plasma catecholamines decreased

•

en:phytanic acid increased

•

en:panhypogammaglobulinemia

•

en:mildly elevated blood ammonia

•

en:occasionally mild elevation of csf protein

•

en:hypertriglyceridemia (rare)

•

en:normal urinary orotic acid

•

en:normal to slightly high alkaline phosphatase

•

en:normal parathyroid hormone (female)

•

en:normal or mildly reduced serum cobalamin

•

en:normal lysosomal hydrolases

•

en:normal iga levels

•

en:normal extrarenal responses to ddavp administration

•

en:normal blood lactate

•

en:normal aldosterone

•

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

•

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

•

en:mild hypertriglyceridemia

•

en:hyperuricemia

•

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

•

en:hypernatriuria

•

en:cerebrospinal fluid oligoclonal bands

•

en:decreased renal calcium excretion

•

en:decreased platelet derived growth factor

•

en:decreased plasma total and free carnitine

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:decreased plasma esterified cholesterol

•

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

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:decreased or absent udp-glucuronyl-transferase activity

•

en:decreased or absent serum citrulline

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

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

•

en:decreased blood levels of cationic amino acids

•

en:decreased activity of tyrosine hydroxylase

•

en:cd4+/cd8+ ratio is reversed

•

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

•

en:carnitine deficiency

•

en:blood urea nitrogen increased

•

en:biotinidase deficiency

•

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

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:alpha-fetoprotein normal

•

en:alkaline phosphatase decreased

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

en:accumulation of guanidinoacetate in brain

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:1,25-dihydroxyvitamin d was elevated in childhood but deficient in adulthood

•

en:serum transaminase increased

•

en:decreased serum acth

•

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

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:factor viii deficiency

•

en:hypercholesterolemia

•

en:hyperchloremia (mean 111 mm)

•

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

•

en:high urinary orotic acid

•

en:high serum guanosine levels

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:hemoglobin decreased

•

en:glomerular filtration rate decreased

•

en:gaucher disease, type 1

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:fragmentation of the mitochondrial network

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:farber lipogranulomatosis

•

en:exercise-induced myoglobinuria in adults

•

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

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:enzyme replacement therapy has not been effective

•

en:elevated serum phosphorus

•

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

•

en:elevated serum iron

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:elevated plasma and urine succinylacetone

•

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

•

en:elevated hcg (choriocarcinoma)

•

en:elevated csf amino acids (arginine, ornithine, aspartate, threonine, glycine, and methionine)

•

en:elevated crp

•

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

•

en:elevated afp (endodermal sinus tumor)

•

en:elevated 8-dehydrocholesterol

•

en:serum testosterone decreased

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:shortened metaphase

•

en:increased neopterin in urine and csf

•

en:iodide organification defect

•

en:intermittent severe hypoglycemia (in some patients)

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary urate

•

en:increased urinary propionyl glycine

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary excretion of cystine

•

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

•

en:increased urinary creatine

•

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

•

en:increased urinary 2-butanone

•

en:increased serum unconjugated bilirubin

•

en:increased serum, urinary, and csf lysine

•

en:increased lysine in serum and csf

•

en:low-molecular-weight proteinuria

•

en:increased levels of carcinoembryonic antigen

•

en:increased interferon-alpha signal

•

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

•

en:increased chromosomal breaks in response to cross-linking agents and ionizing radiation

•

en:incomplete n-glycosylation of cellular proteins

•

en:impaired mitochondrial translation

•

en:hypoglycemia, intermittent

•

en:hypocholesterolemia

•

en:hypertryptophanemia

•

en:hypertriglyceridemia

•

en:hyperprolinemia type 1

•

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

•

en:hyperkalemia

•

en:hyperglutaminemia

•

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

•

en:low density lipoprotein increased

•

en:hydrocortisone decreased

•

en:no dicarboxylic aciduria

•

en:vacuolated lymphocytes

•

en:some increase in monosialo- and trisialotransferrin (type 1/2 pattern)

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:serum triglycerides normal

•

en:serum bilirubin increased

•

en:round, yellow-brown dha urine crystals

•

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

•

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:primary immunoglobulin-related amyloidosis (al)

•

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

•

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

•

en:plasma aldosterone increased

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:normal urinary pterins

•

en:low level of c4 and c2

•

en:normal tyrosinase

•

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

•

en:normal lysl hydroxylase activity

•

en:normal csf neurotransmitters

•

en:normal csf 5-hiaa

•

en:normal collagen type i studies

•

en:normal baseline cortisol

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:neonatal hyperbilirubinemia

•

en:myelin basic protein measurement, spinal fluid

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:methioninuria

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low or absent follicle stimulating hormone (fsh)

•

en:hyperalphalipoproteinemia

•

en:transferrin saturation increased

•

en:high sweat sodium and chloride

•

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

•

en:decreased activity of pyruvate dehydrogenase complex

•

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

•

en:decreased-absent intestinal mucosa lactase activity

•

en:cytoplasmic lamellar concentric inclusions

•

en:csf pleocytosis, particularly of lymphocytes

•

en:chronic hypoxemia

•

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

•

en:atrial abnormalities on electrocardiogram

•

en:argininosuccinic aciduria

•

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

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:aldosterone level increased above normal

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

en:absent anti-insulin receptor antibodies

•

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

•

en:abnormal urinary organic acids

•

en:abnormal transaminases (1 patient)

•

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

•

en:abetalipoproteinemia (lab finding)

•

en:'rectilinear profiles' ultrastructurally in cells

•

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

•

en:very low igm

•

en:variable hypoglycemia

•

en:unresponsive to acth stimulation

•

en:transaminitis

•

en:thyroid dyshormonogenesis 4

•

en:thymic hormone decreased

•

en:high plasma asparagine

•

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

•

en:decreased cholesterol (less common)

•

en:subtelomeric deletion of chromosome 16p

•

en:decreased fumarate hydratase activity

•

en:electrolyturia (1 patient)

•

en:decreased glomerular filtration rate (gfr)

•

en:hemoglobin f increased

•

en:galactosylation defects

•

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

•

en:fasting chylomicronemia

•

en:elevated serum iron and iron binding capacity

•

en:elevated serum acid phosphatase

•

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

•

en:elevated erythrocyte aicar (zmp)

•

en:elevated creatine kinase (in some patients)

•

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

•

en:elevated 1,25(oh)2 d3

•

en:electron microscopy of patient respiratory cells shows reduced inner dynein arms and nexin links

•

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

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:di- and trihydroxycholestanoic acid accumulation

•

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

•

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

•

en:decreased levels of cpt2 protein

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased serum haptoglobin (in some patients)

•

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

•

en:decreased heme-heme interaction (e.g. hb kanagawa 141800.0169)

•

en:decreased thyroxine level

•

en:decreased von willebrand factor

•

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

•

en:deficiency or absence of p22-phox protein

•

en:deficiency or absence of p91-phox protein

•

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

•

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

•

en:lactic acidemia (2p21del)

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:liver phosphorylase kinase (phk) deficiency

•

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

•

en:low plasma triglyceride level

•

en:low serum magnesium

•

en:metabolic acidosis

•

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

•

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

•

en:increased very-long chain fatty acids

•

en:normal 46,xy karyotype

•

en:isovalericaciduria

•

en:increased serum growth hormone levels

•

en:increased urinary thiosulfate

•

en:increased urinary potassium

•

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

•

en:increased urinary dihydropyrimidines

•

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

•

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

•

en:increased serum glutamine

•

en:increased serum bilirubin due to hemolysis

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased serum, urinary, and csf saccharopine (in some patients)

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased il6, episodic

•

en:normal maltase, isomaltase, and sucrase activity

•

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

•

en:increased igg level

•

en:prothrombin time low

•

en:normal or mildly decreased arylsulfatase a activity

•

en:serum growth hormone increased

•

en:abnormal oral glucose tolerance

•

en:increased fractional excretion of uric acid

•

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

•

en:abnormal isoelectric focusing of serum transferrin

•

en:4-hydroxyphenylpyruvic aciduria

•

en:3-methylglutaconic aciduria

•

en:urinary excretion of sialylated oligosaccharides

•

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

•

en:tyrosinemia (transient, resolves in infancy)

•

en:tsh decreased

•

en:thrombocytopenia

•

en:sialylation defects

•

en:severe hypernatremia in neonatal period

•

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

•

en:serum ammonia increased

•

en:normal prolyl 4-hydroxylase activity

•

en:secondary decrease of plasma free carnitine

•

en:reduced bending capacity of cilia

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:platelet count normal

•

en:phosphate normal

•

en:pentagastrin stimulation test

•

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

•

en:orotic aciduria

•

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

•

en:no metabolic abnormalities

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:normal to elevated total plasma carnitine

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal serum plasmalogen

•

en:increased free erythrocyte protoporphyrin

•

en:decreased telomerase activity

•

en:increased csf histidine

•

en:b lymphocytopenia

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased levels of certain coagulation factors

•

en:decreased hexokinase activity in red blood cells

•

en:decreased fibrinogen (in some patients)

•

en:decreased csf arginine

•

en:decreased complement factor d

•

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

•

en:decreased beta-oxidation of pristanic acid

•

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

•

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

•

en:citrullinemia

•

en:chronic hypercapnia

•

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

•

en:bone marrow hypoplasia (in some patients)

•

en:decreased plasma apolipoprotein c-ii

•

en:antiribonuclear protein positive

•

en:anti-iga antibodies commonly present

•

en:aneuploidy of the x chromosome

•

en:aminoaciduria, mild (in some patients)

•

en:aldosterone concentration below normal

•

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

•

en:acute-phase reactants during fever

•

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

•

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

•

en:abnormal igfr1 function

•

en:85-90% dgs patients have deletion of 22q11.2

•

en:3-methylglutaconic aciduria (3-mgc)

•

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

•

en:absence of cd59 expression on red cells

•

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

•

en:decreased scad activity

•

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

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

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

•

en:increased 18-hydroxycortisol

•

en:impaired n-glycosylation

•

en:immediate (type i) skin test reactivity

•

en:hypomethioninemia

•

en:hypokalemia occurs during paralytic attacks

•

en:hypogammaglobulinemia

•

en:hyperglycinuria (disorder)

•

en:hyperglycinemia

•

en:homocystinuria (in some patients)

•

en:hemizygous deletion at 4p16.3

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:galactosuria without galactosemia

•

en:fasting ketosis

•

en:decreased serum luteinizing hormone (lh)

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:elevated plasma ammonia

•

en:elevated liver function tests

•

en:elevated il1-beta

•

en:elevated calcitonin

•

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

•

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

•

en:electron microscopy of foam cells shows lamellar inclusions

•

en:electrolyte disturbances from intractable diarrhea

•

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

•

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

•

en:deficiency of fructokinase

•

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

•

en:abnormal urinary collagen-derived pyridinium crosslinks (absent glc-gal-pyd)

•

en:increased thyroid-stimulating hormone (tsh)

•

en:absence of cpt ii protein

•

en:liver transaminases normal to slightly increased

•

en:mildly elevated urinary mevalonic acid

•

en:mildly elevated hdl in heterozygotes

•

en:microsomal hmg-coa reductase decreased

•

en:median mean platelet volume (mpv) 18fl

•

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

•

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

•

en:low or low-normal serum t4

•

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

•

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

•

en:low cholesterol esterification rates

•

en:low acth level

•

en:low 25-oh-vitamin d level

•

en:long-chain ketonuria

•

en:liver function tests normal

•

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

•

en:lactic acidosis

•

en:lack of lysosomal inclusions in visceral organs

•

•

en:ketoacidosis

•

en:irregular distribution of chondrocytes, enlarged chondrocyte lacunae, excessive fibrous matrix, perilacunar loss of glycosaminoglycan, excessive collagen aggregation

•

en:increased urinary methylcitrate

•

en:increased urinary l-glycerate

•

en:increased urinary fumaric acid

•

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

•

en:increased uric acid with exercise

•

en:increased tissue long-chain fatty acids

•

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

•

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

•

en:mitochondrial malic enzyme reduced

•

en:myoglobinuria with extreme exertion

•

en:increased serum lactate in acute stage

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:absent igg2 subclass

•

en:vitamin b12 deficiency (uncommon)

•

en:very low leptin level

•

en:urine odor, maple syrup

•

en:tyrosine iodination defect

•

en:some fragmented or disrupted golgi

•

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

•

en:serum creatine kinase may be normal

•

en:serum copper decreased

•

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

•

en:reduced serum uric acid

•

en:reduced igg levels, particularly igg2 subclass

•

•

en:pms show deficient oxidation of debrisoquine

•

en:normal calcium (female)

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

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

•

en:parathyroid hormone (pth) absent to low

•

en:paraproteinemia

•

en:organic aciduria

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:no ketonuria

•

en:no c8 antigen detected

•

en:normal urinary cyclic amp response to pth administration

•

en:normal to slightly elevated plasma cholesterol

•

en:normal to increased plasma glycine

•

en:normal serum lipoprotein levels

•

en:normal plasma total homocysteine

•

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

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:serum phosphate concentration below normal

•

en:increased serum lactate during metabolic crisis

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:decreased serum cobalamin

•

en:decreased serum b12 levels

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased plasma total cholesterol

•

en:decreased or absent ciliary motility

•

en:decreased neopterin and biopterin in urine

•

en:decreased natural killer cells

•

en:decreased nasal nitric oxide

•

en:decreased expression of glycosylphosphatidylinositol-linked proteins (e.g., cd59 107271 and cd24 600274) on hematopoietic cells

•

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

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:decreased cortisol-binding globulin

•

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

•

en:decreased axonal flare response after intradermal histamine injection

•

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

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

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

•

en:decreased activity of 2-oxoacid dehydrogenases

•

en:decreased acid beta galactosidase protein and activity

•

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

•

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

•

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

•

en:bicarbonaturia

•

en:axonemes show normal structure

•

en:antineutrophil antibody positivity

•

en:anti-factor viii positive

•

en:alpha ketoadipic aciduria

•

en:increased serum creatine kinase (patient a)

•

en:alanine aminotransferase increased

•

en:dermatan sulfate excretion in urine

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:elevated 3-methylcitric acid

•

en:hypoglycemia

•

en:elevated ammonia

•

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

•

en:increased serum and csf glycine

•

en:increased serum bile acids

•

en:increased plasma phospholipids

•

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

•

en:increased plasma branched-chain fatty acids

•

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

•

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

•

en:increased cholesterol

•

en:increased 11-deoxycortisol

•

en:impaired o-glycosylation

•

en:iiga and igg antigliadin antibodies (aga)

•

en:increased prv-1 (162860) mrna

•

en:hyperornithinemia

•

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

•

en:elevated progesterone

•

en:hypercholesterolemia (disorder)

•

en:elevated urine unsulfated chondroitin sulfate

•

en:extremely low creatine excretion

•

en:fumarase deficiency

•

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

•

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

•

en:homozygous 122kb deletion 11p15-p14

•

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

•

en:hematuria (less common)

•

en:high m-component

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:hypercalcemia

•

en:hyperbilirubinemia

•

en:increased serum fgf23

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:increased serum lactate hydrogenase

•

en:increased serum triiodothyronine (t3)

•

en:increased urinary 2-hydroxybutyrate

•

en:increased serum vitamin b12

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased urinary oligosaccharides

•

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

•

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

•

en:increased serum c26-bile-acid intermediates

•

en:increased csf protein during acute illness

•

en:increased plasma proglucagon

•

en:increased plasma pristanic acid

•

en:increased csf immunoglobulin levels

•

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

•

en:increased bone-specific alkaline phosphatase

•

en:increased alpha-fetoprotein (1 patient)

•

en:immunoglobulin a decreased

•

en:hypogammaglobulinemia (in some patients)

•

en:hypocalcemia (male)

•

en:hyperthreoninuria

•

en:hyperphosphatemia, transient

•

en:hyperlipoproteinemia type iib

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:normal igm levels

•

en:iron deficiency

•

en:normal number of t and b lymphocytes

•

en:rheumatoid factor positive (finding)

•

en:high urinary copper

•

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

•

en:reactive hypoglycemia

•

en:predominance of the d-stereoisomer

•

en:platelet function test normal

•

en:p5c levels increased in urine

•

en:no increased sensitivity to oxidative species

•

en:no hyperphenylalaninemia

•

en:normal serum bile acids

•

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

•

en:normal plasma and tissue carnitine

•

en:normal lysyl oxidase activity

•

en:leukotriene c4 synthetase deficiency

•

en:normal ciliary structure and function

•

en:nonketotic hypoglycemia

•

en:neutral hyperaminoaciduria

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

en:nadh-cytochrome b(5) reductase deficiency

•

en:myoglobinuria after exertion (in some patients)

•

en:mildly elevated creatine phosphokinase (cpk) (120270.0002)

•

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

•

en:methemoglobinemia

•

en:low serum ceruloplasmin

•

en:low growth hormone levels

•

en:liver enzymes abnormal

•

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

•

en:decreased nasal nitric oxide (in some patients)

•

en:high serum osmolality

•

en:coarse metachromatic granules in white blood cells

•

en:decreased ldl cholesterol

•

en:decreased hdl cholesterol

•

en:decreased fbp1 enzyme activity

•

en:decreased eno3 activity

•

en:decreased decr enzyme activity

•

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

•

en:decreased clot retraction

•

en:decreased beta-galactosidase activity

•

en:decreased activity of thymidine phosphorylase

•

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

•

en:creatine decreased

•

en:chylomicronemia, refractory fasting

•

en:decreased nk cells (in some patients)

•

en:cell studies show increased dna breakage

•

en:azoospermia/oligospermia (present at diagnosis)

•

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

•

en:aminoaciduria

•

en:alkaline phosphatase serum increased

•

en:absent tyrosinase activity

•

en:absent axonal flare response after intradermal histamine injection

•

en:abnormal serum glycoproteins

•

en:abnormal liver function test

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern) loss of complete n-glycans

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:serum creatine kinase may be increased

•

en:decreased monoamine oxidase a activity

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:hereditary xanthinuria

•

en:elevated ferritin l subunit

•

en:hepatic glycine cleavage defect

•

en:glycogen accumulation in both liver and muscle

•

en:glutaric aciduria

•

en:foam cells in bone marrow and renal glomeruli

•

en:fibroblasts attach poorly

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:elevated serum transaminases during infections

•

en:elevated serum parathyroid hormone (pth) level

•

en:elevated serum bile acids

•

en:elevated resting serum lactate, increased with exercise

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated levels of vitamin b12

•

en:elevated erythrocyte adenosine deaminase

•

en:decreased phk activity in liver

•

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

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated cerebrospinal fluid (csf) protein

•

en:elevated 7-dehydrocholesterol

•

en:disproportionate work-related increase in blood lactate and pyruvate

•

en:dhea sulfotransferase below limit of detection

•

en:dermatan and heparan sulfate excretion in urine

•

en:deficiency of creatine phosphate in brain

•

en:decreased sulfite oxidase activity

•

en:decreased serum 18-ohb

•

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

•

en:decreased plasmalogens

•

en:serum chloride level decreased (finding)

•

en:decreased plasma arginine

•

en:serum folate normal

•

en:increased serum gamma-ggt (231950)

•

en:ketonuria (1 patient)

•

en:keratan sulfate excretion in urine that decreases with age

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:increased urinary s-sulfocysteine

•

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

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased serum thyrotropin

•

en:increased serum thymidine

•

en:increased serum lipoproteins

•

en:increased serum ferritin (in some patients)

•

en:low serum acth

•

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

•

en:increased plasma lactate

•

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

•

en:increased intracellular fmrp mrna

•

en:increased free cyanocobalamin in fibroblasts

•

en:increased csf and plasma gaba

•

en:hypouricemia

•

en:hyposialylation of o-linked serum glycans

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:hypoglycosylated serum transferrin

•

en:hypocalciuria

•

en:hypocalcemia

•

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

•

en:microduplication of chromosome 5p13

•

en:hyperinsulinemia

•

en:positive antinuclear antibody test

•

en:variable respiratory chain enzyme deficiency

•

en:transient neonatal hypocalcemia (2p21del)

•

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

•

en:thyroid hormone organification defect

•

en:thyroid dyshormonogenesis 5

•

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

•

en:serum testosterone level normal

•

en:schirmer test shows alacrima

•

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

•

en:renin decreased

•

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

•

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

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

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

•

en:patient cells show increased chromosome breakage

•

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

•

en:orotic acid crystalluria

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:normal to mildly increased mucopolysacchariduria

•

en:normal serum phytanic and pristanic acid

•

en:normal serum parathyroid hormone (pth)

•

en:serum triglycerides increased

•

en:normal or increased serum phosphate

•

en:normal-elevated plasma testosterone (male range)

•

en:hyperprolinemia (10-15 times normal)

•

en:normal serum folate levels

•

en:hyperglycemias, postprandial

•

en:bleeding time normal

•

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

•

en:decreased methylmalonyl-coa mutase activity

•

en:decreased levels of plasma factor viii

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased agt activity

•

en:decreased activity of thiopurine s-methyltransferase

•

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

•

en:complex organic aciduria

•

en:cilia may also be static, with slow activity

•

en:ceruloplasmin decreased

•

en:cellular arrest at g2 of the cell cycle

•

en:anomalies of cholesterol levels

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

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

•

en:abnormal lipid profile

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:3-methylglutaric aciduria

•

en:very low iga

•

en:very long chain fatty acid accumulation

•

en:variegated translocation mosaicism in cultured fibroblasts

•

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

•

en:translocation between 18q21 and 14q32

•

en:t-lymphocytopenia

•

en:structural abnormalities seen on chromosome analysis

•

en:homocysteinemia (in some patients)

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:absent or severely reduced levels of serum immunoglobulins

•

en:decreased or normal plasma insulin

•

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

•

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

•

en:decreased respiratory chain complex iii activity in multiple tissues

•

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

•

en:hepatic gamma-cystathionase deficiency

•

en:glucose-6-phosphate deficiency

•

en:gaucher cells, diffuse, in spleen, liver, lymph nodes, bone marrow, central nervous system

•

en:folic acid deficiency

•

en:foam cells in visceral organs and cns

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

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

•

en:elevated urinary 3-methylglutarate

•

en:elevated serum uric acid concentrations

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:elevated plasma estrogen

•

en:decrease plasma serine (fasting)

•

en:decreased serum factor i (atypical hus)

•

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

•

en:decreased tetrasialotransferrin levels

•

en:decreased urinary excretion of uromodulin

•

en:decreased serum c3 (atypical hus)

•

en:decreased uros activity (1 patient)

•

en:defect in mitochondrial and peroxisomal fission

•

en:deficiency of fat-soluble vitamins

•

en:elevated androstenedione and testosterone

•

en:elevated erythrocyte adenosine deaminase (eada)

•

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

•

en:increased serum glycerol

•

en:increased serum manganese

•

en:increased transferrin saturation (>60%)

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased urinary excretion of camp

•

en:increased urinary o-linked sialopeptides

•

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

•

en:increased urinary hydroxyisovaleric acid

•

en:increased urinary malic acid

•

en:increased urinary neopterin

•

en:increased urinary thymine

•

en:increased urinary succinic acid

•

en:increased serum butyryl carnitine

•

en:increased serum creatine kinase (1 family)

•

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

•

en:increased rai (radioactive iodine) uptake

•

en:hypoalbuminemia

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:hb h erythrocyte inclusions

•

en:high sister chromatid exchange (sce) rate

•

en:hyperchloremia (mean 114 mm)

•

en:hypercholesterolemia (reported in 2 patients)

•

en:hyperphosphatemia

•

•

en:increased il-8

•

en:igg deficiency

•

en:immunoreactive pc protein

•

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

•

en:increased biliverdin in bodily fluids

•

en:increased erythrocyte sedimentation rate, episodic

•

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

•

en:increased urine oligosaccharides

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:low-to-normal platelet count

•

en:serum pristanic acid increased

•

en:platelet glycoprotein iiia deficiency

•

en:pyruvate-induced insulin secretion

•

en:raised c-reactive protein

•

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

•

en:reticulocytosis

•

en:serum creatine kinase 20-70 times normal

•

en:shortened telomeres (1 patient)

•

•

en:slightly increased serum alkaline phosphatase may occur

•

en:spongy degeneration of brain on histology

•

en:type 1 collagen overmodification

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

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

•

en:variably increased serum creatine kinase

•

en:platelet factor 4 decreased

•

en:partial deficiency of factor xiii (less common)

•

en:low or normal serum erythropoietin

•

en:median mean platelet volume 13fl

•

en:low plasma arginine

•

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

•

en:low serum levels of ketone bodies

•

en:low serum uric acid

•

en:lysine-ketoglutarate reductase deficiency

•

en:march myoglobinuria

•

en:mild elevation of cholesterol

•

en:no hyperuricemia

•

en:mitochondrial complex i deficiency in muscle

•

en:myoglobinuria after exertion

•

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

•

en:normal male karyotype (46,xy)

•

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

•

en:normal or mildly reduced sphingomyelinase activity

•

en:glutathione deficiency

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846583 • caches: c1=8 c2=1003 c3=1

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