Le Diko - en:increased platelet aggregation with ristocetin

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Le Diko - en:increased platelet aggregation with ristocetin

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le dictionnaire d'associations lexicales
contributif et libre de JeuxDeMots

(id=6881442)

en:increased platelet aggregation with ristocetin

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

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

•

en:some cilia show abnormal beating patterns or immotility

•

en:serum homocysteine normal

•

en:plasma protein c deficiency

•

en:no mucopolysacchariduria

•

en:ketonuria (1 patient)

•

en:hyperlipidemia

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:elevated serum transaminases during infections

•

en:decreased plasma esterified cholesterol

•

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

•

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

•

•

en:myoglobinuria after exertion (in some patients)

•

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

•

en:increased urinary catecholamines

•

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

•

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

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased csf homovanillic acid (hva)

•

en:blood glucose normal

•

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

•

en:iodide organification defect

•

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

•

en:hypocalciuria or normocalciuria

•

en:hyperprolinemia (5-10 times normal)

•

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

•

en:decreased ubiquinone-10

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:atrial abnormalities on electrocardiogram

•

en:aminoaciduria, intermittent

•

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

•

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

•

•

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

•

en:mildly elevated hepatic enzymes

•

en:low maximal oxygen uptake on exercise testing

•

en:liver enzymes abnormal

•

en:glycosuria (less common)

•

en:glycogen storage disease type vii

•

en:elevated serum uric acid concentrations

•

en:elevated androstenedione and testosterone

•

en:decreased serum levels of maoa products

•

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

•

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

en:phosphaturia

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:increased urinary oxylate

•

en:increased plasma long-chain acylcarnitines

•

en:hypoglycemia, fasting

•

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

•

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

•

en:beta-galactosidase deficiency in fibroblasts and white blood cells

•

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

•

en:anti-ssb positive

•

en:alpha ketoadipic aciduria

•

en:abnormal secretin test

•

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

•

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

•

en:low-to-normal csf lactate

•

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

•

en:increased urinary uracil

•

en:increased serum creatine kinase during episodes

•

en:increased serum creatine kinase, mild

•

en:fasting chylomicronemia

•

en:elevated alkaline phosphatase of bone origin

•

en:decreased or absent pts activity

•

en:decreased insulin receptor binding

•

en:decreased copper, iron, zinc

•

en:normal serum and mucosal iga

•

en:elevated urinary and csf ribitol and d-arabitol

•

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

•

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

•

en:triglyceride decreased

•

en:normocalcemia

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:methylenetetrahydrofolate reductase deficiency

•

en:low serum ceruloplasmin

•

en:increased urinary thiosulfate

•

en:increased urinary prostaglandin e2

•

en:increased urinary homovanillic acid (hva)

•

en:increased serum bilirubin due to hemolysis

•

en:hereditary angioedema

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:galactosuria

•

en:fibrinogen decreased

•

en:elevated long chain fatty acids

•

en:elevated csf/plasma glycine ratio

•

en:deficiency or absence of p67-phox protein (type ii)

•

en:decreased udp-glcnac

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased beta-oxidation of pristanic acid

•

en:very low leptin level

•

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

•

en:serum copper decreased

•

en:normal apoa-ii levels in homozygotes

•

en:methylmalonyl-coenzyme a mutase deficiency

•

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

•

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

•

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

•

en:hypoketotic hypoglycemia

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:galactosuria without galactosemia

•

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

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:decreased activity of thiopurine s-methyltransferase

•

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

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:rhabdomyolysis in response to alcohol

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

en:no metabolic abnormalities

•

en:normal to slightly high alkaline phosphatase

•

en:normal or decreased serum potassium

•

en:normal maltase, isomaltase, and sucrase activity

•

en:normal leukocyte and platelet counts

•

en:low rai (radioactive iodine) uptake

•

en:increased urinary formiminoglutamic acid (figlu)

•

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

•

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

•

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

•

en:deletion of chromosome 18p11.2

•

en:decreased fibroblast iduronate sulfatase

•

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

•

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

•

en:5-hiaa csf may be normal or decreased

•

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

•

en:low ldl cholesterol

•

en:increased plasma and urinary pipecolic acid

•

en:increased il6, episodic

•

en:hyperuricemia

•

en:homocysteinemia

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:decreased urinary calcium and phosphate excretion

•

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

•

en:platelet count normal

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:increased urinary ketones

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased intracellular fmrp mrna

•

en:increased igm level

•

en:increased histidine in blood, urine, and csf

•

en:impaired creatine uptake in fibroblasts

•

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

•

en:transferrin saturation increased

•

en:increased serum citrulline (group b)

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:elevated plasma insulin

•

en:decreased serum leptin

•

en:organic aciduria, mild (in some patients)

•

en:lack of excessive parenchymal iron storage

•

en:isovalerylglycinuria

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increased activity of the prpp synthetase 1 enzyme

•

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

•

en:normal transferrin isoelectric profile

•

en:myelin basic protein measurement, spinal fluid

•

en:metachromasia of white blood cells and fibroblasts

•

en:increased urinary fumaric acid

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

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

•

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

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:androgens increased

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:reduced platelet glycoprotein ib complex

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal erythrocyte gs activity

•

en:normal arterial oxygen saturation

•

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

•

en:increased urinary 2-hydroxybutyrate

•

en:hb h erythrocyte inclusions

•

en:elevated plasma galactose (galactosemia)

•

en:defective mitochondrial respiratory enzyme activity

•

en:decreased serum alpha-2 macroglobulin levels

•

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

•

en:creatine kinase normal between episodes

•

en:aberrant gamma-interferon-mediated inflammation

•

en:very low density lipoprotein increased

•

en:urine uric acid decreased

•

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

•

en:tyrosine iodination defect

•

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

•

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

•

en:transient neonatal hypocalcemia (2p21del)

•

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

•

en:t1 transport protein (glucose-6-phosphate translocase) defect

•

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 creatine kinase 20-70 times normal

•

en:reduced serum uric acid

•

en:reduced platelet aggregation response to collagen and thrombin

•

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

•

en:prolonged partial thromboplastin time (ptt)

•

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

•

en:positive urinary bratton-marshall test

•

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

•

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:normal to slightly elevated plasma cholesterol

•

en:normal serum transferrin profiles

•

en:normal serum parathyroid hormone (pth)

•

en:normal serum folate levels

•

en:normal serum cobalamin (vitamin b12)

•

en:normal serum 1,25-dihydroxyvitamin d3

•

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

•

en:normal eosinophil peroxidase activity

•

en:normal concentration of parathyroid hormone

•

en:normal collagen type i studies

•

en:mitochondrial malic enzyme reduced

•

en:microduplication of chromosome 5p13

•

en:medium chain dicarboxylic aciduria

•

en:march myoglobinuria

•

en:low serum acth

•

en:low plasma tryptophan (inflammatory type b)

•

en:low plasma free and total carnitine

•

en:low or low-normal serum t4

•

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

•

en:low apolipoprotein

•

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

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary urate

•

en:increased urinary o-linked sialopeptides

•

en:increased urinary l-glycerate

•

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

•

en:increased urinary, plasma, and csf dihydrothymine

•

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

•

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

•

en:increased serum lactate during metabolic crisis

•

en:increased serum lactate (mild)

•

en:increased serum deoxyuridine

•

en:increased serum c4 and c5 acylcarnitine esters

•

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

•

en:increased serum ammonia (group b)

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased plasma phytanic acid

•

en:increased phytanic acid in body tissues and fluids

•

en:increased hepatic parenchymal cell stainable iron

•

en:increased di- and asialo-transferrin

•

en:increased csf lactate during acute episodes

•

en:increased csf immunoglobulin levels

•

en:increased csf histidine

•

en:increased chromosomal breakage

•

en:impaired n-glycosylation

•

en:immediate (type i) skin test reactivity

•

en:iga antiendomysial antibodies (ema)

•

en:hyperuricuria

•

en:hypercholesterolemia

•

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

•

en:hydroxyprolinuria

•

en:high urinary copper

•

en:hepatic ornithine transcarbamylase deficiency

•

en:hematuria, macroscopic and microscopic

•

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

•

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

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

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

•

en:elevated serum lactate

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated ferritin l subunit

•

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

•

en:elevated androstenedione

•

en:elevated 17-hydroxyprogesterone

•

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

•

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

•

en:diminished lymphocyte response to phytohemaglutinin

•

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

•

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

•

en:decreased telomerase activity

•

en:decreased serum cholesterol (in some)

•

en:decreased serum androgens

•

en:decreased plasmalogens

•

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

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

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

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

en:decreased methylmalonyl-coa mutase activity

•

en:decreased levels of plasma factor viii

•

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

•

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

•

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

•

en:decreased circulating aldosterone level

•

en:decreased beta-thromboglobulin

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:decreased activity of mitochondrial complex i

•

en:decreased-absent intestinal mucosa lactase activity

•

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

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin heavy chain (147100, 14q32) locus

•

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

•

en:ceruloplasmin decreased

•

en:bicarbonaturia

•

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

•

en:antithrombin iii decreased

•

en:aldosterone level increased above normal

•

en:acute hyperammonemia

•

en:absence of cpt ii protein

•

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

•

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

•

en:3-methylglutaconic aciduria

•

en:1.61- and 1.76-mb microduplication of 3q29

•

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

•

en:very low igm

•

en:variable defects of inner dynein arms

•

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

•

en:type iii collagen defect

•

en:transferase deficiency galactosemia

•

en:thyroid peroxidase defect

•

en:structural abnormalities seen on chromosome analysis

•

en:slightly elevated 24-hour mean plasma cortisol

•

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

•

en:serum calcitonin, increased

•

en:serum alkaline phosphatase normal or mildly increased

•

en:secondary decrease of plasma free carnitine

•

en:propionic acidemia

•

en:presence of serum anti-lu3 antibodies

•

en:phosphate normal

•

en:pcs involves most of all chromosomes of a metaphase

•

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

•

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

•

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

•

en:no chromosome breakage

•

en:normal to increased plasma threonine

•

en:normal total urinary coproporphyrin

•

en:normal parathyroid hormone (female)

•

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

•

en:normal aldosterone

•

en:nonketotic hypoglycemia

•

en:nadh-cytochrome b(5) reductase deficiency

•

en:mildly prolonged bleeding time 10-12 minutes

•

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

•

en:methylmalonic acidemia

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:low or absent prolactin (pl)

•

en:long-chain dicarboxylic aciduria

•

en:lactate dehydrogenase increased

•

•

en:increased urinary sialylglycopeptides

•

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

•

en:increased urinary citric acid cycle intermediates

•

en:increased urinary 3-methylcrotonylglycine

•

en:increased serum vitamin b12

•

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

•

en:increased serum prostaglandin e2

•

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

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:increased serum c26-bile-acid intermediates

•

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

•

en:increased serum acyl carnitines

•

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

•

en:increased il1b increased soluble il2r

•

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

•

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

•

en:increased csf pyruvic acid

•

en:increased creatine kinase (ck)

•

en:increased cholesterol

•

en:increased cellular sensitivity to uv light

•

en:immotile cilia

•

•

en:hypocalcemia

•

en:hyperprolinemia type 1

•

en:hyperphosphatemia

•

en:hypernatremia

•

en:hyperlysinemia

•

en:hyperkalemia

•

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

•

en:homozygous 122kb deletion 11p15-p14

•

en:high nonceruloplasmin-bound serum copper

•

en:heparin cofactor ii deficiency (disorder)

•

en:glycoamino aciduria

•

en:foam cells in visceral organs and cns

•

en:fibronectin decreased

•

en:elevated urinary epinephrine

•

en:elevated urinary 2-ethylhydracrylate

•

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

•

en:elevated 8(9)-cholestenol

•

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

•

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

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:decreased xanthine dehydrogenase activity

•

en:decreased von willebrand factor

•

en:decreased t cells

•

en:decreased serum c3 (atypical hus)

•

en:decreased plasma lpl levels (in some patients)

•

en:decreased neopterin and biopterin in csf

•

en:decreased mitochondrial complex iii activity in muscle

•

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

•

en:decreased hepatic gaba transaminase activity

•

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

•

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

•

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

•

en:decreased blood levels of cationic amino acids

•

en:decreased activity of tyrosine hydroxylase

•

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

•

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

•

en:decreased acid sphingomyelinase activity

•

en:creatine decreased

•

en:chromosome 11q23.3 deletion

•

en:calcium normal

•

en:aprt deficiency measured in erythrocyte lysate

•

en:antithrombin iii deficiency

•

en:absence of chylomicrons in lymph and plasma

•

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

•

en:abnormal liver enzymes (in some patients)

•

en:abnormal liver enzymes, intermittent (1 patient)

•

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

•

en:abnormal cardiolipin subspecies composition

•

en:abnormally low cerebrospinal fluid cystatin c

•

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

•

en:xanthine nephrolithiasis

•

en:vitamin k deficiency

•

en:urine odor, maple syrup

•

en:urine cortisol, increased

•

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

•

en:upregulation of alpha-interferon-stimulated genes

•

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

•

en:systemic accumulation of very long chain fatty acids (vlcfa)

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:serum thyroxine may be decreased or normal

•

en:serum ferritin hyperglycosylation

•

en:serum calcium elevated

•

en:serum c-reactive protein may be increased

•

en:serum and csf lactate may be increased

•

en:serum aldosterone elevated

•

en:reduced igg levels, particularly igg2 subclass

•

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

•

•

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

•

en:premature separation of centromeric heterochromatin

•

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

•

en:positive antinuclear antibody test

•

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

•

en:platelet factor 4 decreased

•

en:phytanic acid accumulation

•

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

•

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

•

en:partial deficiency of factor xii(c)

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:no hyperuricemia

•

en:normal sweat electrolytes

•

en:normal serum phytanic and pristanic acid

•

en:normal plasma total homocysteine

•

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

•

en:normal or increased serum phosphate

•

en:normal lactate (hcs)

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:normal igg levels

•

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

•

•

en:nephrotic syndrome

•

en:neonatal hyperbilirubinemia

•

en:mucopolysaccharidosis type iiid

•

en:molybdenum cofactor deficiency

•

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

•

en:mildly elevated hdl in heterozygotes

•

en:markedly increased serum creatine kinase

•

en:low serum uric acid

•

en:low serum levels of ketone bodies

•

en:low serum calcium

•

en:low csf creatine

•

en:liver transaminases normal to slightly increased

•

•

en:isochromosome often missing in lymphocyte

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary excretion of camp

•

en:increased urinary dicarboxylic acid, transient

•

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

•

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

•

en:increased serum serotonin in 25%

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased plasma pristanic acid

•

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

•

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

•

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

•

en:increased long-chain acylcarnitine

•

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

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased igg level

•

en:increased ck-mb

•

en:increased ammonia with exercise

•

en:increased 11-deoxycorticosterone

•

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

•

en:hypobetalipoproteinemias

•

en:hyperprostaglandinuria

•

en:hyperphosphatemia, transient

•

en:hyperphenylalaninemia

•

en:hyperkalemia during attacks

•

en:hyperbilirubinemia in those with liver failure

•

en:homocystinemia

•

en:high urinary orotic acid

•

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

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

en:glycogen storage disease type vi

•

en:glucosuria, mild, intermittent

•

en:gaucher disease, type 1

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:ferritin decreased

•

en:fasting ketosis

•

en:exercise-induced myoglobinuria in adults

•

en:excessive urinary 5-oxo-l-proline

•

•

en:eosinophilia, mild

•

en:elevated white blood cell cystine

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:elevated serum parathyroid hormone (pth) level

•

en:elevated resting serum lactate, increased with exercise

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated liver function tests

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:elevated crp

•

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

•

en:elevated afp (endodermal sinus tumor)

•

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

•

en:electrolyte disturbances from intractable diarrhea

•

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

•

en:defect in retrograde intraflagellar transport in cilia

•

en:defective (ca2+) mobilization in t cells

•

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

•

en:decreased tissue and serum alkaline phosphatase

•

en:decreased serum vitamin a

•

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

•

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

•

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

•

en:decreased nasal nitric oxide

•

en:decreased mitochondrial complex iii activity seen in muscle

•

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

•

en:decreased levels of the e2 subunit protein

•

en:decreased intracellular fmr protein

•

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

•

en:decreased fibroblast alpha-mannosidase

•

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

•

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

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

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

•

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

•

en:cystathionine beta-synthase deficiency disease

•

en:cutaneous anergy

•

en:creatine phosphokinase increased

•

en:coagulopathy (inr = 2.2 - 3.5)

•

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

•

en:chondroitin 6-sulfate excretion in urine

•

en:cholesterol normal

•

en:cellular arrest at g2 of the cell cycle

•

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

•

en:bleeding time normal

•

en:bilirubin may or may not be increased

•

en:antiphospholipid antibody

•

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

•

en:acylglycinuria

•

•

en:absent igg2 subclass

•

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

•

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

•

en:abnormal myelination in sural nerve biopsies

•

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

•

en:abnormal liver enzymes (rare)

•

en:2-aminoadipic aciduria

•

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

•

en:variable hypoglycemia

•

en:urinary excretion of sialylated oligosaccharides

•

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

•

en:tyrosine loss

•

en:t-lymphocytopenia

•

en:submucosal macrophages filled with sphingolipids

•

en:sterol 27-hydroxylase deficiency

•

en:sialylation defects

•

en:severe hypernatremia in neonatal period

•

en:serum complement decreased

•

en:serum cholesterol normal

•

en:relatively low urinary pge-m levels

•

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

•

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

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:pyrimidinuria

•

en:prolonged prothrombin and partial thromboplastin times

•

en:platelet aggregation decreased

•

en:normal transferrin saturation

•

en:normal to prolonged bleeding time

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal serum erythropoietin (epo, 133170)

•

en:normal or mildly increased serum creatine kinase

•

en:normal iga levels

•

en:normal ciliary structure and function

•

en:myoglobinuria

•

en:multi-tailed spermatozoa

•

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

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:low serum anti-mullerian hormone (amh) levels

•

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

•

en:low or normal serum calcium

•

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

•

en:low absolute lymphocyte count

•

en:increased urinary tiglylglycine

•

en:increased urinary sulfatides

•

en:increased urinary hypoxanthine

•

en:increased urinary excretion of coproporphyrin i

•

en:increased urinary acetoacetic acid

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased triglycerides (less common)

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased soluble il2 receptor

•

en:increased serum thrombopoietin may occur

•

en:increased serum s-adenosylmethionine

•

en:increased serum pyruvate, mild

•

en:increased serum lactate hydrogenase

•

en:increased serum creatine kinase in patients with muscle involvement

•

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

•

en:increased plasma pipecolic acid

•

en:increased free cyanocobalamin in fibroblasts

•

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

•

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

•

en:increased biliverdin in bodily fluids

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

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

•

en:impaired o-glycosylation

•

en:iiga and igg antigliadin antibodies (aga)

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:hypoglycosylated serum transferrin

•

en:hyperuricosuria

•

en:hyperoxaluria

•

en:hypercalciuria (in childhood)

•

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:hepatic argininosuccinate synthetase deficiency

•

en:globulin gamma serum plasma increased result

•

en:gamma-glutamylcysteine deficiency

•

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

•

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

•

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

•

en:elevated urinary 3-methylglutarate

•

en:elevated serum protein

•

en:elevated serum alpha-fetoprotein

•

en:elevated plasma phytanic acid

•

en:elevated ast and ldh, especially infantile-onset

•

en:elevated ammonia

•

en:elevated alkaline phosphatase

•

en:disorganized growth plate cartilage

•

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

•

en:deficiency of laminin in basement membranes

•

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

•

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

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

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

•

en:decreased plasma arginine

•

en:decreased palmitate oxidation

•

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

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased ldl cholesterol

•

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

•

en:decreased dna excision repair

•

en:decreased clot retraction

•

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

•

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

•

en:d-2-hydroxyglutaric aciduria

•

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

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:coarse metachromatic granules in white blood cells

•

en:cilia show inner and outer dynein arm defects

•

en:cholesterol low

•

en:bone marrow hypoplasia (in some patients)

•

en:aminoaciduria (in some patients)

•

en:alpha-fetoprotein normal

•

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

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:2-oxoadipic aciduria

•

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

•

en:variable hyperlipidemia

•

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

•

en:undetectable plasma dbh activity

•

en:transcobalamin ii deficiency

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:serum testosterone level normal

•

en:sepiapterin reductase deficiency (fibroblasts)

•

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

•

en:reduced beating amplitudes in cilia

•

en:reduced (50%) activity of protoporphyrinogen oxidase (proto oxidase)

•

en:pms show deficient oxidation of debrisoquine

•

en:platelet glycoprotein iiia deficiency

•

en:pipecolic acid accumulation.

•

en:patient cells show abnormal mitochondrial morphology

•

en:occasional hypomagnesemia

•

en:no ketonuria

•

en:no c8 antigen detected

•

en:normal pyridinoline excretion in urine

•

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

•

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

•

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

•

en:normal free urinary cortisol

•

en:normal csf 5-hiaa

•

en:neutrophilia, both basal and during infections

•

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

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:microsomal hmg-coa reductase decreased

•

en:methioninuria

•

en:lysyl hydroxylase deficiency

•

en:low urinary excretion of neutral 17-ketosteroids

•

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

•

en:low level of c4 and c2

•

en:long-chain ketonuria

•

en:liver function tests normal

•

en:little to absent aspartylglucosaminuria activity

•

en:keratan sulfate excretion in urine that decreases with age

•

en:interstitial or terminal deletion of 18q

•

en:increased urinary thymine

•

en:increased urinary taurine

•

en:increased urinary organic acids (in some patients)

•

en:increased urinary carnitine esters

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased serum unconjugated bilirubin

•

en:increased serum thyrotropin

•

en:increased serum lipoproteins

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum ige

•

en:increased serum and urinary 2-oxoglutarate

•

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

•

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

•

en:increased iga level

•

en:increased csf interferon alpha

•

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

•

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

•

en:impaired response to gm-csf

•

en:hypogammaglobulinemia

•

en:hypocalcemia (male)

•

en:hypoalbuminemia (in 83%)

•

en:hypernatriuria

•

en:hypermagnesemia

•

en:hyperglycinemia

•

en:hypercalciuria

•

en:high serum guanosine levels

•

en:high plasma citrulline (100-300 micromolar)

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:fluorescence of red blood cells by uv microscopy

•

en:farber lipogranulomatosis

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:elevated urine ceramide levels

•

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

•

en:elevated serum transferrin saturation

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated serum bile acids

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:elevated calcitonin

•

en:elevated alpha-ketoglutarate (in most patients)

•

en:dyskinetic ciliary motility

•

en:dicarboxylic aciduria

•

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

•

en:deficiency of serum properdin p factor

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:decreased triiodothyronine level

•

en:decreased tetrasialo-transferrin

•

en:decreased serum thiamine pyrophosphate

•

en:decreased serum haptoglobin

•

en:decreased serum factor h (atypical hus)

•

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

•

en:decreased or absent apolipoprotein a-i

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:decreased mucosal alkaline phosphatase

•

en:decreased csf pyridoxal

•

en:decreased circulating renin level

•

en:decreased cholesterol (less common)

•

en:decreased activity of 2-oxoacid dehydrogenases

•

•

en:alkaline phosphatase normal

•

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

•

en:absent anti-insulin receptor antibodies

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

en:abnormal phospholipid profile

•

en:abnormal nasal potential difference

•

en:abnormal cartilage collagen on em

•

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

•

en:undetectable urinary hypoxanthine

•

en:transaminitis

•

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

•

en:serum albumin low result

•

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

•

en:pyruvic acidemia

•

en:protein c decreased

•

en:prolonged bleeding time

•

en:presence of cytochrome b(-245)

•

en:predominance of the d-stereoisomer

•

en:positive urine dnph screening test

•

en:poor mitogenic response to growth factors

•

en:plasma catecholamines decreased

•

en:phospholipid antibody positive

•

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

•

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

•

en:no elevation of free fatty acids

•

en:no cartilage staining with toluidine blue

•

en:normal to mildly increased serum creatine kinase

•

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

•

en:normal serum bile acids

•

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

•

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

•

en:normal liver histology

•

en:normal constitutional karyotype

•

en:normal complex ii activity

•

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

•

en:neutropenia (in 1 patient)

•

en:mild eosinophilia may occur

•

en:median mean platelet volume (mpv) 20fl

•

en:markedly decreased coproporphyrinogen oxidase activity (harderoporphyria, lymphocytes)

•

en:low or undetectable insulin

•

en:low or normal serum igm

•

en:low cd4+ count

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:karyotype analysis normal finding

•

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

•

en:increased urinary potassium

•

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

•

en:increased urinary carnitine

•

en:increased urinary 3-oh-propionic acid

•

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

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased uric acid level

•

en:increased total and conjugated bilirubin

•

en:increased serum transferrin

•

en:increased serum lactate

•

en:increased serum growth hormone levels

•

en:increased serum glutamine

•

en:increased serum ferritin

•

en:increased serum acylcarnitines

•

en:increased il-8

•

en:increased gamma-interferon

•

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

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:impaired platelet aggregation

•

en:immunoglobulin antibodies present

•

en:hypocalcemia (64% of adults)

•

en:hypertriglyceridemia

•

en:hypercholesterolemia (disorder)

•

en:hyperammonemia

•

en:homocitrullinuria

•

en:high serum inosine levels

•

en:high ebv viral load

•

en:hemizygous deletion at 7q11.23

•

en:gm2-ganglioside accumulation

•

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

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:fasting hypoglycemia (early in disease course)

•

en:elevated serum parathyroid hormone (pth)

•

en:elevated plasma alloisoleucine

•

en:elevated liver transaminases

•

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

•

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

•

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

•

en:elevated acth

•

en:defect in dna repair

•

en:defects in mitochondrial oxidative phosphorylation

•

en:decreased tissue total and free carnitine

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased serum and muscle coenzyme q

•

en:decreased or absent histidase activity

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:decreased long-chain fatty acid oxidation

•

en:decreased glutamine in bodily fluids

•

en:decreased fibroblast arylsulfatase a

•

en:decreased complement factor d

•

en:decreased ciliary motility

•

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

•

en:decreased c3 activity

•

en:decreased antithrombin iii (rare)

•

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

•

en:chronic hypercapnia

•

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

•

en:chromosomal mosaicism in cultured cells

•

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

•

en:blood urea nitrogen increased

•

en:antineutrophil cytoplasmic antibody

•

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

•

en:aneuploidy of the x chromosome

•

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

•

en:alpha fetoprotein increased

•

en:aldosterone concentration below normal

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

en:absent axonal flare response after intradermal histamine injection

•

en:abnormal urinary compounds

•

en:abnormal n-glycosylation of transferrin

•

en:abnormal liver function test

•

en:very low igg

•

en:vacuolated lymphocytes

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:translocation of chromosomes 9 and 13

•

en:serum transferrin glycosylation is normal

•

en:serum pristanic acid increased

•

en:serum cholesterol low or normal

•

en:serum carnitine deficiency

•

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

•

en:reduced erythrocyte glucose/hexose transport

•

en:raised c-reactive protein

•

en:prothrombin time increased

•

en:platelet antibody positive

•

en:persistent ebv viremia

•

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

•

en:partial deficiency of factor xiii (less common)

•

en:paraproteinemia

•

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

•

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

•

en:no lactic acidosis

•

en:no evidence of perinatal infection

•

en:normal renin level

•

en:normal plasma phytanic acid

•

en:normal phytanic acid

•

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

•

en:normal male karyotype (46,xy)

•

en:n-glycosylation defect

•

en:myoglobinuria with extreme exertion

•

en:myoglobinuria after exertion

•

en:mildly elevated acth

•

en:microdeletion 22q11.2

•

en:methylglutaconic aciduria, mild

•

en:markedly reduced igg levels

•

en:low to very low hdl cholesterol

•

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

•

en:low serum alpha-fetoprotein (recessive)

•

en:low or normal serum erythropoietin

•

en:low cholesterol esterification rates

•

en:lactic acidemia

•

•

en:inner and outer dynein arm defects, variable

•

en:increased urinary sulfatide excretion

•

en:increased urinary excretion of cystine

•

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

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased urinary 2-butanone

•

en:increased total bilirubin may occur

•

en:increased sodium-potassium pump activity

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:increased serum methionine (reported in 2 cases)

•

en:increased serum lactate in acute stage

•

en:increased serum iduronate sulfatase

•

en:increased serum gm-csf

•

en:increased serum beta-hexosaminidase

•

en:increased serum and csf glycine

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased fractional excretion of uric acid

•

en:increased erythropoietin

•

en:increased csf protein during acute illness

•

en:increased bile acid intermediates (dhca and thca)

•

en:impairment of urinary concentration

•

en:impaired oxidation of pyruvate

•

en:hypoproteinemia due to hypercatabolism

•

en:hypophosphatemia (less common)

•

en:hyponatremia in infancy

•

en:hypokalemia occurs during paralytic attacks

•

en:hyperhomocystinemia

•

en:holocarboxylase synthetase deficiency

•

en:high serum osmolality

•

en:high ft3/ft4 ratio

•

en:hereditary factor x deficiency

•

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

•

•

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

•

en:glycogen accumulation in both liver and muscle

•

en:generalized amyloid deposition

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:fibroblasts show decreased mitochondrial complex v activity

•

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

•

en:elevated sweat chloride

•

en:elevated sepiapterin in csf

•

en:elevated pregnenolone

•

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

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated levels of vitamin b12

•

en:elevated inflammatory markers

•

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

•

en:direct hyperbilirubinemia

•

en:dhea sulfotransferase below limit of detection

•

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

•

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

•

en:deficiency of creatine phosphate in brain

•

en:defect in double-stranded dna repair

•

en:decreased serum 18-ohb

•

en:decreased phk activity in liver

•

en:decreased or absent serum citrulline

•

en:decreased levels of cpt2 protein

•

en:decreased adenosylcobalamin

•

en:cytoplasmic lamellar concentric inclusions

•

en:cytogenetic deletion of chromosome 19q13

•

en:csf pleocytosis, particularly of lymphocytes

•

en:continuous urinary iodine loss

•

en:chromosomal instability

•

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

•

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

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:borderline elevated low-density lipoprotein

•

en:aminoaciduria (1 patient)

•

en:alanine aminotransferase increased

•

en:adrenocorticotropic hormone, increased

•

en:abnormal urinary organic acids

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6881442 • caches: c1=8 c2=1003 c3=1

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