Diko : en:high m-component

en:high m-component

Catégories

Nom

Informations lexicales

Langue:anglais

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umls:C3151542

Associations d'idées

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1000

en:serum cortisol decreased

•

en:tyrosine loss

•

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

•

en:bile contains cholesterol crystals

•

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

•

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

•

en:decreased red cell pyruvate kinase activity

•

en:impaired oxidation of pyruvate

•

en:methylmalonic aciduria, mild

•

en:mildly prolonged bleeding time 10-12 minutes

•

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

•

en:phosphate normal

•

en:relatively low urinary pge-m levels

•

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

•

en:urinary excretion of mucopolysaccharides

•

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

•

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

•

en:intracellular granular material on ultrastructural analysis

•

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

•

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

•

en:increased peripheral blood monocytes

•

en:increased urine vanillactic acid (vla)

•

en:homocitrullinuria

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:elevated sepiapterin in csf

•

en:decreased serum complement factor h

•

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

•

en:hematuria (less common)

•

en:hypoketotic hypoglycemia

•

en:increased long-chain acylcarnitine

•

en:increased serum c-reactive protein, episodic

•

en:increased serum lactate (patient a)

•

en:iron deficiency

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:serum complement decreased

•

en:5-oxoprolinase deficiency

•

en:increased urinary o-linked sialopeptides

•

en:defective dna repair

•

en:elevated plasma insulin

•

en:homocystinuria

•

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

•

en:hypoalphalipoproteinemia

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:leukocytosis

•

en:mild to moderate hyperammonemia

•

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

•

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

•

en:increased di- and asialo-transferrin

•

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

•

en:low-to-normal csf lactate

•

en:ketonuria, acute

•

en:increased urinary thiosulfate

•

en:decreased beta-glucosidase protein and activity

•

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

•

en:elevated total bilirubin

•

en:elevated serum iron and iron binding capacity

•

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

•

en:decreased long-chain fatty acid oxidation

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal extrarenal responses to ddavp administration

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

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

•

en:increased serum lactate during metabolic crisis

•

en:severe hypernatremia in neonatal period

•

en:partial deficiency of factor xiii (less common)

•

en:mildly elevated urinary mevalonic acid

•

en:reticulocytosis

•

en:increased urinary propionyl glycine

•

en:low plasma arginine

•

en:increased erythrocyte sedimentation rate, episodic

•

en:histiocytic infiltration of liver, spleen, and lungs

•

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

•

en:elevated serum iron

•

en:decreased serum ferritin

•

en:decreased plasma glycine

•

en:abnormal secretin test

•

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

•

en:3-methylglutaric aciduria (3-mga)

•

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

•

en:coarse metachromatic granules in white blood cells

•

en:decreased mitochondrial complex iii activity in muscle

•

en:elevated plasma alloisoleucine

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:serum albumin low result

•

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

•

en:cytogenetic deletion of chromosome 19q13

•

en:dhea sulfotransferase below limit of detection

•

en:glycinuria

•

en:hla-dqw6 association (dqb1*0602)

•

en:increased csf interferon

•

en:increased plasma progastrin

•

en:low level of c4 and c2

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:serum pristanic acid increased

•

en:increased il18

•

en:antiphospholipid antibody

•

en:normal to prolonged bleeding time

•

en:normal lysyl oxidase activity

•

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

•

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

•

en:homocystinuria (in some patients)

•

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

•

en:decreased nk cells (in some patients)

•

en:decreased levels of serum vitamin b12

•

en:decreased adenosylcobalamin

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:5-hiaa csf may be normal or decreased

•

en:bleeding time normal

•

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

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:increased urinary 2-ketoglutarate (variable)

•

en:decreased plasma esterified cholesterol

•

en:serum prolactin increased

•

en:serum creatine kinase may be normal

•

en:platelet factor 4 decreased

•

en:mild hyperammonemia

•

en:normal free urinary cortisol

•

en:increased ige level

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:hypercalciuria (in childhood)

•

en:glycogen storage disease type vi

•

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

•

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

•

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

•

en:decreased fibrinogen (in some patients)

•

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

•

en:high plasma citrulline (100-300 micromolar)

•

en:increased lactate: pyruvate ratio (group b)

•

en:increased urinary ketones

•

en:low serum levels of branched-chain amino acids

•

en:submucosal macrophages filled with sphingolipids

•

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

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:increased serum methionine (reported in 2 cases)

•

en:increased urinary neopterin

•

en:low or absent luteinizing hormone (lh)

•

en:mild elevation of triglycerides

•

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

•

en:hyperprolinemia (5-10 times normal)

•

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

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:increased plasma and urinary pipecolic acid

•

en:abnormal serum glycoproteins

•

en:decreased plasma gonadotrophin

•

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

•

en:decreased acid sphingomyelinase activity

•

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

•

en:mildly decreased serum creatinine

•

en:hyperlipidemia

•

en:serum iron low (finding)

•

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

•

en:transferrin saturation increased

•

en:multiple autoantibodies

•

en:low or low-normal serum t4

•

en:increased serum creatine kinase in acute stage

•

en:upregulation of alpha-interferon-stimulated genes

•

en:increased interferon-alpha signal

•

en:elevated ferritin l subunit

•

en:decreased iga, igg, igm

•

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

•

en:impaired mitochondrial translation

•

en:high serum guanosine levels

•

en:no elevation of free fatty acids

•

en:methionine adenosyltransferase deficiency

•

en:low alkaline phosphatase

•

en:impaired response to gm-csf

•

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

•

en:galactosuria

•

en:decreased or absent dihydropteridine reductase activity

•

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

•

en:chromosome 11q23.3 deletion

•

en:decreased csf serine

•

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

•

en:elevated leukotriene e(4)

•

en:decreased levels of plasma vwf antigen

•

en:normal lysl hydroxylase activity

•

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

•

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

•

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

•

en:plasma protein c deficiency

•

en:normal serum folate levels

•

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

•

en:neonatal hyperbilirubinemia

•

en:mild elevation of cholesterol

•

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

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:increased rai (radioactive iodine) uptake

•

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

•

en:median mean platelet volume (mpv) 12.5fl

•

en:low growth hormone levels

•

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

•

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

•

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

•

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

•

en:methylmalonic acidemia

•

en:methylsuccinic aciduria

•

en:normal dermal hydroxylysine content

•

en:multi-tailed spermatozoa

•

en:nonketotic hypoglycemia

•

en:low absolute lymphocyte count

•

en:increased nasal-potential difference (some)

•

en:increased urinary 2-hydroxybutyrate

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

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

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increased urinary tiglylglycine

•

en:increased urinary potassium

•

en:increased urinary mannose-containing oligosaccharides

•

en:increased urinary creatine-to-creatinine ratio

•

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

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased serum prostaglandin e2

•

en:increased serum and csf lactate

•

en:increased plasma renin activity

•

en:increased plasma pristanic acid

•

en:normal lysosomal hydrolases

•

en:normal erythrocyte gs activity

•

en:serum acid phosphatase normal

•

en:normal or increased serum phytanic acid

•

en:reduced total and free carnitine in plasma and tissue

•

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

•

en:abnormal liver enzymes, intermittent

•

en:abnormal columnization of chondrocytes

•

en:vitamin d deficiency

•

en:urinary excretion of sialylated oligosaccharides

•

en:transient eosinophilia in first decade

•

en:transferase deficiency galactosemia

•

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

•

en:smooth muscle antibodies positive

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:serum creatine kinase may be increased

•

en:increased fractional excretion of uric acid

•

en:secondary decrease of plasma free carnitine

•

en:pyruvic acidemia

•

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

•

en:presence of serum anti-lu3 antibodies

•

en:positive urine dnph screening test

•

en:pms excrete 10 to 200 times less metabolite in urine than wildtype (em)

•

en:platelet aggregation decreased

•

en:phospholipid antibody positive

•

en:panhypogammaglobulinemia

•

en:p5c levels increased in urine

•

en:orotic aciduria

•

en:no cartilage staining with toluidine blue

•

en:normal urinary 17-ketosteroids

•

en:normal serum phosphorus

•

en:normal parathyroid hormone (female)

•

en:normal or mildly reduced serum cobalamin

•

en:increased free erythrocyte protoporphyrin

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:increased disialo- and asialotransferrin

•

en:cd4/cd8 ratio decreased

•

en:decreased serum factor b (atypical hus)

•

en:decreased serum 25-hydroxyvitamin d

•

en:decreased or absent serum ceruloplasmin

•

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

•

en:decreased eno3 activity

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased cpt1 activity

•

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

•

en:decreased activity of thymidine phosphorylase

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

en:cystathioninemia

•

en:cilia show inner and outer dynein arm defects

•

en:cells show increased sensitivity to ionizing radiation

•

en:cd4+/cd8+ ratio is reversed

•

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

•

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

•

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

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

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

•

en:absent platelet agglutination in presence of ristocetin

•

en:absent ch50 activity in complete c4 deficiency

•

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

•

en:absence of chylomicrons in lymph and plasma

•

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

•

en:abnormal isoelectric focusing of serum transferrin (type 2 pattern)

•

en:abnormal igfr1 function

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:aldosterone level increased above normal

•

en:decreased serum follicle-stimulating hormone (fsh)

•

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

•

en:increased csf taurine

•

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

•

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

•

en:increased bone-specific alkaline phosphatase

•

en:inappropriately increased urine osmolality

•

en:hyperphosphatemia, transient

•

en:hypermagnesemia

•

en:hyperkalemia during attacks

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:hypercholesterolemia

•

en:hypercalciuria (in some patients)

•

en:homocysteinemia

•

en:high sweat electrolyte

•

en:hereditary fructose intolerance

•

en:hereditary angioedema

•

en:gm2-ganglioside accumulation

•

en:duplication or deletion at 11p15.5

•

en:globulin gamma serum plasma increased result

•

en:fibronectin decreased

•

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

•

en:fasting hypoglycemia (early in disease course)

•

en:factor vii deficiency

•

en:elevated urinary pge(2) levels

•

en:elevated urinary 3-methylglutarate

•

en:elevated serum transaminase levels

•

en:elevated serum levels of 2-prime deoxyadenosine

•

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

•

en:elevated pyruvate (in most patients)

•

en:elevated plasma stigmasterol

•

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

•

en:absent 7-dehydrocholesterol

•

en:defective glcnac-pi synthesis

•

en:aminoaciduria (1 patient)

•

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

•

en:low or undetectable c-peptide

•

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-to-normal platelet count

•

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

•

en:little to absent aspartylglucosaminuria activity

•

en:lactic acidemia

•

en:lactate high

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:increased urinary taurine

•

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

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:march myoglobinuria

•

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

•

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

•

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

•

en:increased serum lactate, particularly after exercise

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased lactate in spinal fluid

•

en:increased il1b increased soluble il2r

•

en:increased igm level

•

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

•

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

•

en:immunoglobulin antibodies present

•

en:hypouricemia

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:markedly reduced igg levels

•

en:hypofibrinogenemia

•

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

•

en:urine uric acid decreased

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:thyroid dyshormonogenesis 3

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:shortened telomeres (1 patient)

•

en:severely decreased palmitate oxidation

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum mitochondrial autoantibodies

•

en:serum iron normal

•

en:serum creatine kinase may be normal or increased

•

en:serum carnitine deficiency

•

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

•

en:prolonged prothrombin time (pt)

•

en:myoglobinuria with extreme exertion

•

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

•

en:positive urinary bratton-marshall test

•

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

•

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

•

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

•

en:parathyroid hormone (pth) absent to low

•

en:normal serum creatine kinase

•

en:normal serum biotin concentration

•

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

•

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

•

en:normal lysyl hydroxylase activity

•

en:normal lactate (hcs)

•

en:normal axonal flare response after intradermal histamine injection

•

en:hypokalemia

•

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

•

en:hypocholesterolemia

•

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

•

en:decreased serum haptoglobin

•

en:decreased serum carnitine in acute stage

•

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

•

en:decreased plasma total and free carnitine

•

en:decreased plasma apolipoprotein c-ii

•

en:decreased methionine synthase activity

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:decreased glomerular filtration rate (gfr)

•

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

•

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

•

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

•

en:decreased conversion of beta-carotene to vitamin a (retinol)

•

en:decreased circulating aldosterone level

•

en:decreased triiodothyronine level

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

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

•

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

•

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

•

en:cerebrospinal fluid lymphocytosis

•

en:cd4+/cd8+ ratio often reversed

•

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

•

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

•

en:borderline elevated low-density lipoprotein

•

en:blood pyruvic acid increased

•

en:bilirubin may or may not be increased

•

en:atrial abnormalities on electrocardiogram

•

en:hypertryptophanemia

•

en:decreased tissue and serum alkaline phosphatase

•

en:argininosuccinic aciduria

•

en:defect in n- and o-glycosylation

•

en:ferritin decreased

•

en:hypernatremia

•

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

•

en:hydrocortisone decreased

•

en:homocysteinemia (in some patients)

•

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

•

en:hereditary factor x deficiency

•

en:heparan sulfate excretion in urine

•

en:hematuria

•

en:hair bulbs will pigment when incubated with tyrosine

•

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

•

en:green serum

•

en:glyoxalase deficiency

•

en:hawkinsinuria

•

en:fasting ketosis

•

en:elevated fasting triglycerides (seen in heterozygotes as well)

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:fasting hyperinsulinemia

•

en:elevated 17-hydroxyprogesterone

•

en:elevated bilirubin (bilirubinemia)

•

en:elevated circulating parathyroid hormone (pth) level

•

en:distal xp22.3 segmental monosomy

•

en:elevated free carnitine

•

en:elevated plasma desmosterol

•

en:elevated serum parathyroid hormone (pth) level

•

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

•

en:euvolemia

•

en:elevated il1-beta

•

en:low copper and ceruloplasmin

•

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

•

en:increased urine porphyrins at times

•

en:leukotriene c4 synthetase deficiency

•

en:lipopigment in extraneuronal cells

•

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

•

en:low or absent growth hormone (gh)

•

en:low plasma triglyceride level

•

en:microscopic hematuria

•

en:mildly elevated transaminases

•

en:mild elevation of transaminases

•

en:increased urinary homovanillic acid (hva)

•

en:abnormal liver enzymes (1 patient)

•

en:increased csf and plasma ghb

•

en:increased urinary glutaric acid

•

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

•

en:increased urinary 3-oh-butyric acid

•

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

•

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

•

en:increased serum vitamin b12

•

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

•

en:increased serum lactate hydrogenase

•

en:increased serum creatine kinase, mild

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased platelet aggregation with ristocetin

•

en:increased plasma long-chain acylcarnitines

•

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

•

en:increased csf protein during acute illness

•

en:mild eosinophilia may occur

•

en:platelet count normal

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

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

•

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

•

en:3-methylglutaconic aciduria

•

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

•

en:urinary prostaglandin e

•

en:structural abnormalities seen on chromosome analysis

•

en:serum osmolality decreased

•

en:serum ferritin normal

•

en:serum ammonia increased

•

en:reticulocyte count increased

•

en:reduced platelet glycoprotein ib complex

•

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

•

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

•

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

•

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

•

en:prolonged partial thromboplastin time

•

en:plasma catecholamines decreased

•

en:plasma aldosterone normal

•

en:phosphorylase kinase normal in muscle

•

en:peroxisome deficiency

•

en:no hyperphenylalaninemia

•

en:normocalcemia

•

en:normal serum liver enzymes

•

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

•

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

•

en:normal complex ii activity

•

en:normal cd8+/cd4+ ratio

•

en:myoglobinuria (reported in 1 patient)

•

en:abnormal isoelectric focusing of serum transferrin

•

en:elevated 8(9)-cholestenol

•

en:increased biopterin in urine and csf

•

en:decreased glutamine in bodily fluids

•

en:decreased transferrin increased serum iron

•

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

•

en:decreased serum rt3

•

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

•

en:decreased serum igm

•

en:decreased serum haptoglobin (in some patients)

•

en:decreased plasminogen antigen

•

en:decreased plasma serine

•

en:decreased palmitate oxidation

•

en:decreased or increased serum testosterone

•

en:decreased monoamine oxidase a activity

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

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

•

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

•

en:cystathioninuria (lab finding)

•

en:creatine kinase normal between episodes

•

en:chromosomal mosaicism in cultured cells

•

en:antiribonuclear protein positive

•

en:aminoaciduria (in some patients)

•

en:albuminuria

•

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

•

en:absence of outer dynein arms

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:abnormal liver enzymes, intermittent (1 patient)

•

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

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:abnormal transaminases (1 patient)

•

en:decreased von willebrand factor

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:inappropriately normal or increased plasma hepcidin

•

en:glutathione deficiency

•

en:impairment of urinary concentration

•

en:hypoxemia

•

en:hypoglycosylation of plasma glycoproteins

•

en:hyperchloremia (mean 111 mm)

•

en:hypercalciuria

•

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

•

en:hyperammonemia

•

en:high urinary copper

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:high ebv viral load

•

en:heparin cofactor ii deficiency (disorder)

•

en:hematuria, gross and microscopic

•

en:granular osmiophilic deposits (grod) in cells

•

en:glutaric acidemia type 1

•

en:direct coombs test negative

•

en:generalized aminoaciduria

•

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

•

en:gamma-glutamylcysteine deficiency

•

en:fibrinogen decreased

•

en:eosinophilia

•

en:elevated serum parathyroid hormone (pth)

•

en:elevated sed rate

•

en:elevated plasma citrulline (citrullinemia)

•

en:elevated plasma acth

•

en:elevated long chain fatty acids

•

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

•

en:elevated csf glycine

•

en:disorganized growth plate cartilage

•

en:abnormal nasal potential difference

•

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

•

en:absent anti-insulin receptor antibodies

•

en:increased urinary hga

•

en:methylglutaconic aciduria, mild

•

en:methemoglobin concentration 12 to 19%

•

en:low serum igg and iga

•

en:low serum alpha-fetoprotein (recessive)

•

en:low plasma free and total carnitine

•

en:low acth level

•

en:keratan sulfate excretion in urine that decreases with age

•

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

•

en:iron overload (in some patients)

•

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

•

en:intermittent severe hypoglycemia (in some patients)

•

en:increased urinary l-glycerate

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:increased serum unconjugated bilirubin

•

en:increased serum thyrotropin

•

en:increased serum ferritin (in some patients)

•

en:increased serum creatine kinase (patient a)

•

en:increased serum bilirubin (in some patients)

•

en:increased serum beta-hexosaminidase

•

en:increased serum alanine

•

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

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased serum, urinary, and csf lysine

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased plasma proinsulin

•

en:increased plasma pipecolic acid

•

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

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:increased levels of carcinoembryonic antigen

•

en:pyruvate-induced insulin secretion

•

en:absent axonal flare response to intradermal histamine injection

•

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

•

en:uric acid normal

•

en:type 1 collagen overmodification

•

en:transient hyperlipidemia

•

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

•

en:serum ferritin hyperglycosylation

•

en:serum copper decreased

•

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

•

en:rheumatoid factor negative

•

en:renin decreased

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

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

•

en:prolonged activated partial thromboplastin time (aptt)

•

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

•

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

•

en:premature separation of centromeric heterochromatin

•

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

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

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

•

en:occasional hypomagnesemia

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:normal transferrin isoelectric profile

•

en:normal to mildly increased mucopolysacchariduria

•

en:normal serum phytanic and pristanic acid

•

en:normal serum cobalamin (vitamin b12)

•

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

•

en:normal csf 5-hiaa

•

en:increased osmotic fragility

•

en:mildly elevated hdl in heterozygotes

•

en:increased intracellular fmrp mrna

•

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

•

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

•

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

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:defect in retrograde intraflagellar transport in cilia

•

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

•

en:decreased urinary calcium and phosphate excretion

•

en:decreased renal calcium excretion

•

en:decreased phk activity in liver

•

en:decreased nasal nitric oxide

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

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

•

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

•

en:decreased acid sphingomyelinase activity (less than 5%)

•

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

•

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

•

en:decreased-absent intestinal mucosa lactase activity

•

en:cilia may also be static, with slow activity

•

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

•

en:chondroitin 6-sulfate excretion in urine

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:bicarbonaturia

•

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

•

en:axonemes show normal structure

•

en:alkaline phosphatase normal

•

en:acylglycinuria

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

en:increased gamma-interferon

•

en:electron microscopy of foam cells shows lamellar inclusions

•

en:decreased axonal flare response after intradermal histamine injection

•

en:elevated androstenedione

•

en:gaucher disease, type 1

•

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

•

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

•

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

•

en:increased blood alanine

•

en:hypoalbuminemia

•

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

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:hyperammonemia, episodic

•

en:high sister chromatid exchange (sce) rate

•

en:hepatic ornithine transcarbamylase deficiency

•

en:hepatic glycine cleavage defect

•

en:gonadotrophin increased

•

en:glutaric aciduria

•

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

•

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

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:galactosuria without galactosemia

•

en:elevated ast (aspartate aminotransferase) and cpk (creatine phosphokinase)

•

en:elevated cerebrospinal fluid (csf) protein

•

en:elevated fasting glucose

•

en:elevated gamma-glutamyltransferase (ggt)

•

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

•

en:elevated resting serum lactate, increased with exercise

•

en:excessive urinary 5-oxo-l-proline

•

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

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:fluorescence of red blood cells by uv microscopy

•

en:elevated urine ceramide levels

•

en:increased urinary dopamine

•

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

•

en:increased serum lactate (in some patients)

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased urinary cortisol/cortisone ratio

•

en:lactate pyruvate ratio normal

•

en:karyotype analysis normal finding

•

en:kypokalemia

•

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

•

en:low-normal igm

•

en:low leukocyte alkaline phosphatase activity

•

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

•

en:increased serum beta-carotene

•

en:increased il-6

•

en:increased plasma phytanic acid

•

en:increased plasma creatine

•

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

•

en:increased csf histidine

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

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

•

en:low or normal serum calcium

•

en:immunoglobulin a decreased

•

en:immotile or weakly motile cilia

•

en:igg, elevated

•

en:hypophosphatemia (less common)

•

en:hypokalemia occurs during paralytic attacks

•

en:hypoglycemia, fasting

•

en:hypogammaglobulinemia (in some patients)

•

en:impaired n-glycosylation

•

en:sweat test normal

•

en:lysosomal-like storage vacuoles in various tissues

•

en:oligospermia or azoospermia

•

en:hypertriglyceridemia, transient

•

en:sterol 27-hydroxylase deficiency

•

en:serum triglycerides increased

•

en:serum thiamine is normal

•

en:serum creatine kinase may be normal or elevated

•

en:serum chloride level decreased (finding)

•

en:serum bicarbonate increased

•

en:reduced bending capacity of cilia

•

en:prothrombin time low

•

en:prolonged prothrombin and partial thromboplastin times

•

en:presence of vacuoles on muscle biopsy

•

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

•

en:partial deficiency of factor xiii(c)

•

en:oestradiol decreased

•

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

•

en:normal to slightly high alkaline phosphatase

•

en:normal to mildly increased serum creatine kinase

•

en:normal serum cobalamin

•

en:normal red cell counts

•

en:normal plasma and tissue carnitine

•

en:normal or mildly increased serum creatine kinase

•

en:normal igm levels

•

en:normal aldosterone

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

en:mildly elevated blood ammonia

•

en:methylenetetrahydrofolate reductase deficiency

•

en:metabolic acidosis

•

en:median mean platelet volume (mpv) 20fl

•

en:hyperuricuria

•

en:abnormal cholesterol homeostasis

•

en:hypercholesterolemia (in 75%)

•

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

•

en:decreased ldl cholesterol

•

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

•

en:decreased hepatic gaba transaminase activity

•

en:decreased fibroblast iduronate sulfatase

•

en:decreased decr enzyme activity

•

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

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased cerebrospinal fluid folic acid

•

en:decreased adiponectin

•

en:decreased activity of phosphoglycerate kinase 1

•

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

•

en:coombs positive hemolytic anemia

•

en:contiguous gene deletion syndrome

•

en:bone marrow hypoplasia (in some patients)

•

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

•

en:blood urea nitrogen increased

•

en:ballooned neurons

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:anti-ds dna antibody

•

en:aminoaciduria

•

en:alpha fetoprotein increased

•

en:absent alkyl-dhap synthase activity

•

en:abnormal serum transferrin pattern (in some patients)

•

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

•

en:abnormal n-glycosylation of transferrin

•

en:abnormal liver enzymes during illness

•

en:unresponsive to acth stimulation

•

en:4-hydroxyphenyllactic aciduria

•

en:decreased methylcobalamin (mecbl)

•

en:decreased neopterin and biopterin in csf

•

en:hypercholesterolemia (10%)

•

en:elevated plasma estrogen

•

en:holocarboxylase synthetase deficiency

•

en:high urinary orotic acid

•

en:high plasma triglyceride levels

•

en:high ornithine

•

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

•

en:fumarase deficiency

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:excessive iodide trapping

•

en:elevated urinary epinephrine

•

en:elevated urinary 2-ethylhydracrylate

•

en:elevated serum uric acid concentrations

•

en:elevated plasma levels of lp(a)

•

en:elevated hepatic transaminases

•

en:decreased serum and muscle coenzyme q

•

en:elevated gamma-glutamyltransferase

•

en:elevated alkaline phosphatase

•

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:deficient fibroblast aicar-tf activity

•

en:deficiency of laminin in basement membranes

•

en:defects in mitochondrial oxidative phosphorylation

•

en:defective dna repair after ultraviolet radiation damage

•

en:decrease plasma serine (fasting)

•

en:decreased urinary sulfate

•

en:decreased tissue total and free carnitine

•

en:decreased tetrasialotransferrin levels

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:decreased serum cobalamin

•

en:triglyceride decreased

•

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

•

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

•

en:increased urinary succinic acid

•

en:lysyl hydroxylase deficiency

•

en:lysine-ketoglutarate reductase deficiency

•

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

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low free carnitine

•

en:low csf creatine

•

en:liver transaminases normal to slightly increased

•

en:large spermatozoa

•

en:lactic acidosis

•

en:isovaleric acidemia

•

en:isochromosome often missing in lymphocyte

•

en:increased urine oligosaccharides

•

en:increased urinary thymine

•

en:increased urinary excretion of cystine

•

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

•

en:increased urinary adenosine

•

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

•

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

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:increased serum lactate in acute stage

•

en:increased serum iduronate sulfatase

•

en:increased serum gm-csf

•

en:increased serum citrulline (group b)

•

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

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:increased ferritin

•

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

•

en:increased cellular sensitivity to uv light

•

en:markedly increased serum creatine kinase

•

en:metachromasia of white blood cells and fibroblasts

•

en:igg deficiency

•

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

•

en:variably increased serum creatine kinase

•

en:variable hyperlipidemia

•

en:urine cortisol, increased

•

en:transcobalamin ii deficiency

•

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

•

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

•

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

•

en:some fragmented or disrupted golgi

•

en:serum cholesterol raised

•

en:serum and csf lactate may be increased

•

en:serum aldosterone elevated

•

en:schirmer test shows alacrima

•

en:reduced igg levels, particularly igg2 subclass

•

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

•

en:myoglobinuria after exertion

•

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

•

en:proteinuria

•

en:proper antibody response to protein vaccinations

•

en:prolinuria

•

en:primary immunoglobulin-related amyloidosis (al)

•

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

•

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

•

en:pms show deficient oxidation of debrisoquine

•

en:patient cells show increased chromosome breakage

•

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

•

en:no c8 antigen detected

•

en:normal baseline cortisol

•

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

•

en:inappropriately low urine osmolality

•

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

•

en:hyponatremic dehydration, rarely

•

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

•

en:decreased plasma triglycerides

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:decreased peroxisomal fatty acid beta-oxidation

•

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

•

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

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:decreased erythrocyte plasmalogen

•

en:decreased dermal hydroxylysine content

•

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

•

en:decreased c3 antigen

•

en:decreased agt activity

•

en:decreased activity of ppt1

•

en:complex organic aciduria

•

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

•

en:decreased serum bun

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

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

•

en:aminoaciduria, intermittent

•

en:alpha 1 foetoprotein amniotic fluid increased

•

en:acute hyperammonemia

•

en:acth normal

•

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

•

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

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

en:abnormal lipid profile

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:vitamin b12 deficiency (in some patients)

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:decreased serum 18-ohb

•

en:2-aminoadipic aciduria

•

en:decreased serum luteinizing hormone (lh)

•

en:elevated serum levels of adenosine

•

en:decreased switched memory b cells

•

en:hypoglycosylated serum transferrin

•

en:high sweat sodium and chloride

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:hereditary xanthinuria

•

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

•

en:glycosuria

•

en:galactosemia

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:factor viii deficiency

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

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

•

en:elevated serum phosphorus

•

en:hyperphosphatemia

•

en:elevated serum bile acids

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:direct hyperbilirubinemia

•

en:deficient efflux of intracellular cholesterol

•

en:elevated 3-hydroxypropionic acid

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:elevated calcitonin

•

en:elevated crp

•

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

•

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

•

en:elevated levels of vitamin b12

•

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

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated plasma propionylcarnitine

•

en:increased urinary hydroxyisovaleric acid

•

en:increased urinary isobutyryl glycine

•

en:increased urinary organic acids (in some patients)

•

en:increased urinary s-sulfocysteine

•

en:low plasma methionine

•

en:indirect hyperbilirubinemia

•

en:inner and outer dynein arm defects, variable

•

en:intermittent ethylmalonic aciduria

•

en:iodide organification defect

•

en:iron binding capacity total increased

•

en:ketoacidosis

•

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

•

en:increased serum ammonia (group b)

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased urinary and serum glycine

•

en:increased sodium-potassium pump activity

•

en:increased serum lactate (mild)

•

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

•

en:increased serum butyryl carnitine

•

en:increased serum alkaline phosphatase (in some patients)

•

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

•

en:increased lysine in serum and csf

•

en:increased histidine in blood, urine, and csf

•

en:increased csf lactate

•

en:increased circulating renin level

•

en:myelin basic protein measurement, spinal fluid

•

en:low serum calcium

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:normal-elevated plasma testosterone (male range)

•

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

•

en:xanthine nephrolithiasis

•

en:vitamin b12 deficiency (uncommon)

•

en:very low density lipoprotein increased

•

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

•

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

•

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

•

en:transient neonatal hypocalcemia (2p21del)

•

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

•

en:telomere shortening

•

en:shortened telomeres (in 1 of 2 patients)

•

en:serum triglycerides normal

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:raised c-reactive protein

•

en:normal collagen type i studies

•

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

•

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

•

en:platelet antibody positive

•

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

•

en:partial deficiency of factor xii(c)

•

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

•

en:no lactic acidosis

•

en:no hyperuricemia

•

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

•

en:normal sweat electrolytes

•

en:normal renin level

•

en:normal exocrine pancreatic function

•

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

◀

Génériques

[F] [H]

›

en:high

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846006 • caches: c1=50 c2=1361 c3=284

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