Diko : en:increased urinary excretion of camp

en:increased urinary excretion of camp

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1835000

Associations d'idées

[F]

›

1000

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

•

en:alpha 1 foetoprotein amniotic fluid increased

•

en:microduplication of chromosome 5p13

•

en:defective dna repair after ultraviolet radiation damage

•

en:hyperlysinemia

•

en:lipopigment in extraneuronal cells

•

en:normal or decreased serum potassium

•

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

•

en:serum growth hormone increased

•

en:mildly prolonged bleeding time 10-12 minutes

•

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

•

en:glycosuria

•

en:hypertriglyceridemia, transient

•

en:igg, elevated

•

en:increased hepatic parenchymal cell stainable iron

•

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

•

en:increased urinary tricarboxylic acid intermediates

•

en:elevated serum lactate

•

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

•

en:variable hypoglycemia

•

en:phospholipid antibody positive

•

en:normal isoelectric focusing of serum transferrin

•

en:elevated creatine kinase (in some patients)

•

en:myoglobinuria after exertion (in some patients)

•

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

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:blood pyruvic acid increased

•

en:widespread interstitial fibrosis (visceral organs)

•

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

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:hypomethioninemia

•

en:normal serum parathyroid hormone (pth)

•

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

•

en:karyomegaly may be found in other visceral organs

•

en:decreased serum bun

•

en:high ft3/ft4 ratio

•

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

•

en:defective dna repair

•

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

•

en:generalized amyloid deposition

•

en:reticulocyte count increased

•

en:ceruloplasmin decreased

•

en:abnormal myelination in sural nerve biopsies

•

en:abnormal liver function tests (sgot, sgpt)

•

en:serum ammonia increased

•

en:increased blood alanine

•

en:normal serum plasmalogen

•

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

•

en:hyperchloremia (mean 114 mm)

•

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

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:decreased activity of complement factor d

•

en:decreased neopterin and biopterin in csf

•

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

•

en:cystathionine beta-synthase deficiency disease

•

en:increased plasma long-chain acylcarnitines

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:elevated il1-beta

•

en:normal igg levels

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:normal serum and mucosal iga

•

en:increased csf interferon alpha

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:hereditary xanthinuria

•

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

•

en:galactosemia

•

en:elevated lathosterol

•

en:p5c levels increased in urine

•

en:abnormal liver enzymes, episodic

•

en:glucose-6-phosphate deficiency

•

en:hyperammonemia

•

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

•

en:lower total cholesterol

•

en:low plasma citrulline

•

en:normal or mildly reduced serum cobalamin

•

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

•

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

•

en:pentagastrin stimulation test

•

en:serum iron raised

•

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

•

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

•

en:increased serum osteocalcin

•

en:ketosis

•

en:urine uric acid decreased

•

en:protein total decreased

•

en:serum calcium elevated

•

en:serum creatinine raised

•

en:no metabolic abnormalities

•

en:tyrosine loss

•

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

•

en:reduced ferrochelatase activity

•

en:decreased mitochondrial complex v assembly

•

en:increased serum citrulline (group b)

•

en:increased igm level

•

en:hyposialylation of o-linked serum glycans

•

en:decreased or normal serum factor i

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:defects in mitochondrial oxidative phosphorylation

•

en:decreased phk activity in liver

•

en:increased urinary dihydropyrimidines

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

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

•

en:normal cerebrospinal fluid

•

en:median mean platelet volume 13fl

•

en:serum carnitine deficiency

•

en:increased plasma homogentisic acid (hga)

•

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

•

en:electrolyte disturbances from intractable diarrhea

•

en:dhea sulfotransferase below limit of detection

•

en:decreased serum carnitine in acute stage

•

en:blood glucose normal

•

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

•

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

•

en:elevated serum transaminase levels

•

en:homocysteinemia (in some patients)

•

en:immunoreactive pc protein

•

en:normal constitutional karyotype

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

en:adrenocorticotropic hormone, increased

•

en:decreased ubiquinone-10

•

en:decreased levels of cpt2 protein

•

en:high plasma citrulline (100-300 micromolar)

•

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

•

en:increased plasma and urinary pipecolic acid

•

en:increased serum direct bilirubin

•

en:increased urinary taurine

•

en:no hyperuricemia

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:elevated 7-dehydrocholesterol

•

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

•

en:methemoglobinemia

•

en:low or normal serum igm

•

en:increased cholesterol

•

en:tsh decreased

•

en:elevated liver enzymes

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:decreased plasma total cholesterol

•

en:anti-iga antibodies commonly present

•

en:mitochondria dna deletion

•

en:increased serum lactate in acute stage

•

en:unresponsive to acth stimulation

•

en:exercise-induced myoglobinuria in adults

•

en:microsomal hmg-coa reductase decreased

•

en:low density lipoprotein increased

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:hematuria

•

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

•

en:euvolemia

•

en:elevated sepiapterin in csf

•

en:decreased iga, igg, igm

•

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

•

en:absent anti-insulin receptor antibodies

•

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

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

en:increased acetoacetate: beta-hydroxybutyrate ratio (group b)

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:elevated serum protein

•

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

•

en:deficient fibroblast aicar-tf activity

•

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

•

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

•

en:decreased nasal nitric oxide (in some patients)

•

en:intermediate level of cellular sensitivity to uv light

•

en:increased urine porphyrins at times

•

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

•

en:aldolase a deficiency

•

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

•

en:anomalies of cholesterol levels

•

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

•

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

•

en:increased urinary urate

•

en:increased urinary hydroxyisovaleric acid

•

en:serum homocysteine normal

•

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

•

en:csf pleocytosis, particularly of lymphocytes

•

en:glucosuria, mild, intermittent

•

en:dicarboxylic aciduria

•

en:deficient efflux of intracellular cholesterol

•

en:decreased serum and salivary lactoferrin has been described in 1 family

•

en:increased urinary ketones

•

en:increased urinary mannose-containing oligosaccharides

•

en:hypoproteinemia (in 1 patient)

•

en:increased urinary sulfite

•

en:isovalerylglycinuria

•

en:intermittent dicarbonic aciduria

•

en:intracellular pas-positive polyglucosan inclusion bodies ('lafora' bodies) can be found in various tissues (brain, liver, muscle, heart, skin)

•

en:low serum alkaline phosphatase in heterozygotes

•

en:karyotype analysis normal finding

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:increased transferrin saturation (>60%)

•

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

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased serum bilirubin (in some patients)

•

en:increased serum beta-hexosaminidase

•

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

•

en:increased prv-1 (162860) mrna

•

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

•

en:increased excretion of urobilinogen

•

en:increased csf interferon

•

en:increased csf glycine

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:iduronate sulfatase deficiency in fibroblasts, amniocytes and white blood cells

•

en:low serum ceruloplasmin

•

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

•

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

•

en:low to normal plasma methionine

•

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

•

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

•

en:sialylation defects

•

en:severe hypernatremia in neonatal period

•

en:serum osmolality decreased

•

en:serum creatine kinase may be normal or elevated

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:protein c decreased

•

en:hyperthreoninemia

•

en:phytanic acid increased

•

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

•

en:no chromosome breakage

•

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

•

en:normal to mildly increased serum creatine kinase

•

en:normal serum liver enzymes

•

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

•

en:normal red cell counts

•

en:normal or mildly increased serum creatine kinase

•

en:normal iga levels

•

en:normal ciliary structure and function

•

en:nonketotic hypoglycemia

•

en:nadh-cytochrome b(5) reductase deficiency

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

en:myoglobinuria

•

en:multi-tailed spermatozoa

•

en:hypocalcemia (64% of adults)

•

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

•

en:hyperkalemia

•

en:citrullinemia

•

en:decreased nk cells (in some patients)

•

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

•

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

•

en:decreased galactokinase activity

•

en:decreased fibroblast arylsulfatase a

•

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

•

en:decreased beta-oxidation of pristanic acid

•

en:decreased beta-glucosidase protein and activity

•

en:decreased beta-galactosidase activity

•

en:decreased activity of mitochondrial respiratory complexes

•

en:creatine kinase normal between episodes

•

en:cilia show inner and outer dynein arm defects

•

en:decreased phgdh activity (fibroblasts)

•

en:blood urea nitrogen increased

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:antithrombin iii deficiency

•

en:albuminuria

•

en:absent enteric ganglia beginning at rectum and extending proximally by varying degrees

•

en:absence of outer dynein arms

•

en:absence of chylomicrons in lymph and plasma

•

en:abnormal serum glycoproteins

•

en:5-hiaa csf may be normal or decreased

•

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

•

en:jansen type metaphyseal chondrodysplasia

•

en:decreased or absent gch1 activity

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

en:hyperchloridura

•

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

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

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

•

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

•

en:hematuria (less common)

•

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

•

en:glycosuria (less common)

•

en:globulin gamma serum plasma increased result

•

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

•

en:galactosylation defects

•

en:fucosidosis

•

en:fibroblasts show increased sensitivity to apoptosis

•

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

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:fasting hypoglycemia (early in disease course)

•

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

•

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

•

en:elevated urine unsulfated chondroitin sulfate

•

en:elevated plasma methionine (methioninemia)

•

en:elevated plasma campesterol

•

en:elevated liver transaminases

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:deletion of chromosome 18p11.2

•

en:defect in mitochondrial and peroxisomal fission

•

en:decreased t cells

•

en:decreased serum igm

•

en:very long chain fatty acid accumulation

•

en:direct hyperbilirubinemia

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

en:lactate high

•

en:mildly elevated urinary mevalonic acid

•

en:mildly elevated hdl in heterozygotes

•

en:methioninuria

•

en:metachromasia of white blood cells and fibroblasts

•

en:low serum calcium

•

en:low plasma free and total carnitine

•

en:low or undetectable c-peptide

•

en:low apolipoprotein

•

en:liver function tests normal

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:lactic acidemia

•

en:intracellular granular material on ultrastructural analysis

•

en:muscle and liver tissue show decreased activities of mitochondrial complexes i, ii, and iii

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased urinary cortisol/cortisone ratio

•

en:increased urinary citric acid cycle intermediates

•

en:increased urinary catecholamines

•

en:increased urinary 2-hydroxybutyrate

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased serum uric acid

•

en:increased serum triiodothyronine (t3)

•

en:increased serum lactate (in some patients)

•

en:increased serum lactate

•

en:mild elevation of triglycerides

•

en:normal lysl hydroxylase activity

•

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

•

en:reduced unsaturated serum cobalamin binding capacity

•

en:very low igg

•

en:absent igg2 subclass

•

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

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

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

•

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

•

en:some fragmented or disrupted golgi

•

en:serum pristanic acid increased

•

en:serum mitochondrial autoantibodies

•

en:serum creatine kinase may be normal or increased

•

en:sepiapterin reductase deficiency (fibroblasts)

•

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

•

en:normal serum creatine kinase

•

en:proteinuria

•

en:positive antinuclear antibody test

•

en:platelet factor 4 decreased

•

en:plasma aldosterone increased

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

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

•

en:patient cells show increased chromosome breakage

•

en:no mucopolysacchariduria

•

en:no evidence of perinatal infection

•

en:no dicarboxylic aciduria

•

en:no chromosomal breakage

•

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

•

en:increased serum c26-bile-acid intermediates

•

en:normal tyrosinase

•

en:increased pristanic acid

•

en:decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes

•

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

•

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

•

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

•

en:elevated afp (endodermal sinus tumor)

•

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

•

en:decreased scad activity

•

en:decreased plasminogen activity

•

en:decreased or absent glycogen branching enzyme activity

•

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

•

en:decreased circulating renin level

•

en:decreased c3 antigen

•

en:decreased activity of thiopurine s-methyltransferase

•

en:elevated levels of vitamin b12

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:decreased activity of ppt1

•

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

•

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

•

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

•

en:cellular arrest at g2 of the cell cycle

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:antiphospholipid antibody

•

en:increased platelet aggregation with ristocetin

•

en:antineutrophil antibody positivity

•

en:anti-factor viii positive

•

en:elevated fasting glucose

•

en:decreased cholesterol (less common)

•

en:elevated resting serum lactate, increased with exercise

•

en:hypobetalipoproteinemias

•

en:increased interleukin 10

•

en:increased il18

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:increased plasma pristanic acid

•

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

•

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

•

en:impaired n-glycosylation

•

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

•

en:immunoglobulin a decreased

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hypokalemia during attacks

•

en:hypoglycosylation of plasma glycoproteins

•

en:hypoglycorrhachia (low glucose in csf)

•

en:hypoproteinemia due to hypercatabolism

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:elevated urinary ornithine, lysine, arginine

•

en:hyperglycemia

•

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

•

en:elevated serum transferrin saturation

•

en:hereditary factor x deficiency

•

en:hepatic ornithine transcarbamylase deficiency

•

en:hemophilia b

•

en:glutaric aciduria

•

en:glomerular filtration rate decreased

•

en:hypoalbuminemia (in 83%)

•

en:low plasma triglyceride level

•

en:median mean platelet volume (mpv) 12.5fl

•

en:methionine adenosyltransferase deficiency

•

en:methylenetetrahydrofolate reductase deficiency

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:normal dermal hydroxylysine content

•

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

•

en:neutral hyperaminoaciduria

•

en:normal arterial oxygen saturation

•

en:normal or increased serum phytanic acid

•

en:normal b12

•

en:normal erythrocyte gs activity

•

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

•

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

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased urinary thiosulfate

•

en:increased urinary excretion of coproporphyrin i

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

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

•

en:increased urinary and serum glycine

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased tissue long-chain fatty acids

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased susceptibility to ebv infection

•

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

•

en:increased serum ferritin (in some patients)

•

en:increased serum creatine kinase (1 family)

•

en:normal total urinary coproporphyrin

•

en:increased plasma pipecolic acid

•

en:increased plasma phospholipids

•

en:normal serum cobalamin

•

en:urinary prostaglandin e

•

en:normal to increased plasma threonine

•

en:serum cholesterol normal

•

en:increased lactate in spinal fluid

•

en:abnormal cartilage collagen on em

•

en:3-methylglutaconic aciduria

•

en:2-aminoadipic aciduria

•

en:vitamin d deficiency

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:variable defects of inner dynein arms

•

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

•

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

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

en:thyroid dyshormonogenesis 4

•

en:tenascin x deficiency (serum and fibroblasts)

•

en:sweat test normal

•

en:serum testosterone decreased

•

en:serum calcitonin, increased

•

en:no elevation of free fatty acids

•

en:platelet count normal

•

en:no increased sensitivity to oxidative species

•

en:parathyroid hormone level increased

•

en:partial deficiency of factor xi (less common)

•

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

•

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

•

en:pipecolic acidemia

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:serum bicarbonate increased

•

en:premature chromosome condensation

•

en:presence of cytochrome b(-245)

•

en:presence of pc mrna

•

en:prolonged prothrombin and partial thromboplastin times

•

en:reduced erythrocyte gs activity

•

en:rheumatoid factor positive (finding)

•

en:increased neopterin in urine and csf

•

en:decreased activities of multiple sulfatases

•

en:increased ige level

•

en:decreased cerebrospinal fluid folic acid

•

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

•

en:decreased serum factor b (atypical hus)

•

en:decreased serum ceruloplasmin

•

en:decreased s-ado:saicar ratio

•

en:decreased plasma arginine

•

en:decreased or absent serum ceruloplasmin

•

en:decreased or absent histidase activity

•

en:decreased or absent ciliary motility

•

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

•

en:decreased levels of certain coagulation factors

•

en:decreased leptin

•

en:decreased hexokinase activity in red blood cells

•

en:decreased grhpr activity

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

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

•

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

•

en:aneuploidy of the x chromosome

•

en:abnormal liver enzymes (1 patient)

•

en:abnormal cholesterol homeostasis

•

en:absent or abnormal thyroglobulin

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

en:aldosterone concentration below normal

•

en:alpha-fetoprotein normal

•

en:aprt deficiency measured in erythrocyte lysate

•

en:decreased antithrombin iii (rare)

•

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

•

en:chromosomal mosaicism in cultured cells

•

en:chromosome 11q23.3 deletion

•

en:chylomicronemia, refractory fasting

•

en:creatine decreased

•

en:decreased activity of tyrosine hydroxylase

•

en:deficiency of fat-soluble vitamins

•

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

•

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

•

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

•

en:increased disialotransferrin and asialotransferrin levels

•

en:increased csf threonine

•

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

•

en:increased bone serum acid phosphatase

•

en:increased 11-deoxycortisol

•

en:inappropriately low urine osmolality

•

en:immotile cilia

•

en:iiga and igg antigliadin antibodies (aga)

•

en:hypokalemia during periodic paralysis (most patients)

•

en:hypoglycemia, intermittent

•

en:hypertryptophanemia

•

en:heteroplasmic partial duplication of mtdna

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:hb h erythrocyte inclusions

•

en:galactosuria

•

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

•

en:elevated il6

•

en:elevated 3-methylcitric acid

•

en:elevated 8(9)-cholestenol

•

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

•

en:elevated erythrocyte aicar (zmp)

•

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

•

en:elevated hepatic transaminases

•

en:elevated plasma estrogen

•

en:folic acid deficiency

•

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

•

en:elevated serum phosphate in heterozygotes

•

en:elevated serum uric acid concentrations

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:fibrinogen decreased

•

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

•

en:abnormal lipid profile

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:abnormal liver function tests (in some patients)

•

en:increased urinary malic acid

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:medium chain dicarboxylic aciduria

•

en:low to normal serum calcium

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low or absent luteinizing hormone (lh)

•

en:low level of c4 and c2

•

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

•

en:low acth level

•

en:low-to-normal platelet count

•

en:ketonuria (1 patient)

•

en:iron overload (in some patients)

•

en:indirect hyperbilirubinemia

•

en:increased urine oligosaccharides

•

en:increased urinary sulfatide excretion

•

en:increased urinary creatine-to-creatinine ratio

•

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

•

en:increased urinary 3-oh-butyric acid

•

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

•

en:increased tissue levels of free fatty acids

•

en:increased soluble il2 receptor

•

en:increased serum total cholesterol

•

en:increased serum methionine

•

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

•

en:increased serum beta-carotene

•

en:increased plasma renin activity

•

en:increased plasma levels of bile acid intermediates

•

en:increased lactate: pyruvate ratio (group b)

•

en:increased il-6

•

en:increased igg level

•

en:increased fibroblast free sialic acid

•

en:mild elevation of cholesterol

•

en:mucopolysaccharidosis type iiid

•

en:increased csf protein during acute illness

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:abnormal oral glucose tolerance

•

en:acrodysostosis 1 with or without hormone resistance

•

en:very low density lipoprotein increased

•

en:upregulation of alpha-interferon-stimulated genes

•

en:undetectable serum l-transferrin (homozygous patient)

•

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

•

en:thyroid hormone organification defect

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:spongy degeneration of brain on histology

•

en:serum testosterone level normal

•

en:serum iron normal

•

en:serum gastrin increased

•

en:serum cholesterol raised

•

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

•

en:proper antibody response to protein vaccinations

•

en:normal apoa-ii levels in homozygotes

•

en:normal serum phytanic and pristanic acid

•

en:normal csf 5-hiaa

•

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

•

en:normal or increased serum phosphate

•

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

•

en:normal renin level

•

en:normal serum 1,25-dihydroxyvitamin d3

•

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

•

en:prolinuria

•

en:normal urinary cyclic amp response to pth administration

•

en:normal urinary pterins

•

en:orotic acid crystalluria

•

en:pink urine

•

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

•

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

•

en:increased fas ligand

•

en:serum folate low

•

en:increased csf and plasma ghb

•

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

•

en:decreased serum leptin

•

en:decreased serum free thyroxine

•

en:decreased serum ferritin

•

en:decreased serum androgens

•

en:decreased serum 18-ohb

•

en:decreased platelet derived growth factor

•

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

•

en:decreased or absent serum citrulline

•

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

•

en:decreased or absent apolipoprotein a-i

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:decreased natural killer cells

•

en:decreased levels of plasma vwf antigen

•

en:decreased intracellular fmr protein

•

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

•

en:decreased triiodothyronine level

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:increased biopterin in urine and csf

•

en:absent axonal flare response to intradermal histamine injection

•

en:accumulation of neutral lipids (triglycerides) in leukocytes, muscle cells, fibroblasts, and cardiomyocytes

•

en:aspartylglycosaminuria

•

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

•

en:cd4+/cd8+ ratio often reversed

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:decreased erythrocyte plasmalogen

•

en:decreased activity of 2-oxoacid dehydrogenases

•

en:decreased activity of dihydrofolate reductase

•

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

•

en:decreased beta-thromboglobulin

•

en:decreased csf hypocretin

•

en:decreased dermal hydroxylysine content

•

en:decreased tetrasialo-transferrin

•

en:decreased acid beta galactosidase protein and activity

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:hematuria, macroscopic and microscopic

•

en:increased 18-oxocortisol

•

en:impairment of urinary concentration

•

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

•

en:impaired oxidation of pyruvate

•

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

•

en:igm deficiency

•

en:hyperthreoninuria

•

en:hyperprostaglandinuria

•

en:hypermethioninemia, progressive

•

en:hyperlipoproteinemia type iib

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:hypercalciuria

•

en:hydroxyprolinuria

•

en:homocysteinemia

•

en:hypocalcemia (male)

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:fasting hyperinsulinemia

•

en:glyoxalase deficiency

•

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

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:elevated serum phosphorus

•

en:elevated mchc

•

en:elevated androstenedione

•

en:elevated urinary mevalonic acid

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:glycogen accumulation in both liver and muscle

•

en:fibroblasts attach poorly

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

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:folate-dependent fragile site at xq28

•

en:marked elevation of erythrocyte sedimentation rate

•

en:intermittent increase of urinary ethylmalonic acid

•

en:ketoses, metabolic

•

en:leukotriene c4 synthetase deficiency

•

en:liver phosphorylase kinase (phk) deficiency

•

en:low plasma hdl

•

en:low alkaline phosphatase

•

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

•

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

•

en:may have increased serum parathyroid hormone (pth)

•

en:increased urinary formiminoglutamic acid (figlu)

•

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

•

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

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased urinary 3-methylglutaconic acid

•

en:increased urinary 2-oxoglutaric acid

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:increased serum lactate (mild)

•

en:increased serum deoxyuridine

•

en:increased rai (radioactive iodine) uptake

•

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

•

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

•

en:increased peripheral blood monocytes

•

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

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:peroxisome deficiency

•

en:mildly elevated blood ammonia

•

en:poor mitogenic response to growth factors

•

en:vitamin b12 deficiency (in some patients)

•

en:increased free cyanocobalamin in fibroblasts

•

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

•

en:sterol 27-hydroxylase deficiency

•

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

•

en:severely impaired ciliary motility

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:reduced erythrocyte adenosine deaminase activity

•

en:prothrombin time low

•

en:presence of vacuoles on muscle biopsy

•

en:presence of serum anti-lu3 antibodies

•

en:plasma triglycerides increased

•

en:mild elevation of transaminases

•

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

•

en:orotic aciduria

•

en:occasionally mild elevation of csf protein

•

en:normal to slightly high alkaline phosphatase

•

en:normal to prolonged bleeding time

•

en:normal serum bile acids

•

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

•

en:normal plasma renin

•

en:normal aldosterone

•

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

•

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

•

en:monoclonal gammopathy

•

en:increased il-8

•

en:deficiency or absence of p22-phox protein

•

en:increased ferritin

•

en:decreased activity of the pdh phosphatase

•

en:elevated alkaline phosphatase

•

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

•

en:deficiency of laminin in basement membranes

•

en:decreased thyroxine level

•

en:decreased serum haptoglobin (in some patients)

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased plasma free carnitine

•

en:decreased or absent dihydropteridine reductase activity

•

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

•

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

•

en:decreased csf homovanillic acid (hva)

•

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

•

en:elevated gastrin concentration

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:absent platelet agglutination in presence of ristocetin

•

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

•

en:abnormal urinary oligosaccharides

•

en:abnormal serum liver enzyme levels

•

en:abnormal liver function test

•

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

•

en:abnormal igfr1 function

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:abnormal acylcarnitine profiles

•

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

•

en:abnormal columnization of chondrocytes

•

en:elevated fibroblast free sialic acid

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:increased circulating renin level

•

en:high m-component

•

en:igg deficiency

•

en:hyponatremic dehydration, rarely

•

en:hypoglycemia

•

en:hyperuricosuria

•

en:hypertriglyceridemia (in some patients)

•

en:hypertriglyceridemia

•

en:hyperprolinemia (10-15 times normal)

•

en:hypercholesterolemia (disorder)

•

en:hypercalciuria (in childhood)

•

en:homocystinuria

•

en:high serum inosine levels

•

en:hepatic gamma-cystathionase deficiency

•

en:elevated urinary delta-aminolevulinic acid

•

en:hepatic argininosuccinate synthetase deficiency

•

en:hemizygous deletion at 7q11.23

•

en:hematuria, gross and microscopic

•

en:granular osmiophilic deposits (grod) in cells

•

en:glycogen storage disease type vii

•

en:glutaric acidemia type 1

•

en:fumarase deficiency

•

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

•

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

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:factor vii deficiency

•

en:elevated urinary hyaluronic acid levels

•

en:abetalipoproteinemia (lab finding)

•

en:decreased factor xi

•

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

•

en:increased serum lactate (patient a)

•

en:low serum levels of ketone bodies

•

en:low serum igg and iga

•

en:low-molecular-weight proteinuria

•

en:lack of lysosomal inclusions in visceral organs

•

en:ketoacidosis

•

en:increased urinary organic acids (in some patients)

•

en:increased urinary l-glycerate

•

en:increased urinary dopamine

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased serum thrombopoietin may occur

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased serum glutamine

•

en:mitochondrial malic enzyme reduced

•

en:increased serum creatine kinase (less common)

•

en:increased serum arylsulfatase a.

•

en:increased serum alpha-mannosidase

•

en:increased serum alanine (1 patient)

•

en:increased serum acylcarnitines

•

en:increased plasma creatine

•

en:increased nasal-potential difference (some)

•

en:increased creatinine

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:increased 11-deoxycorticosterone

•

en:iga antiendomysial antibodies (ema)

•

en:hypophosphatemia (less common)

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:nephrotic syndrome

•

en:hypocitraturia

•

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

•

en:xanthine nephrolithiasis

•

en:variably increased serum creatine kinase

•

en:variable respiratory chain enzyme deficiency

•

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

•

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

•

en:t-cell deficit

•

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

•

en:serum phosphate concentration below normal

•

en:serum aldosterone elevated

•

en:reticulocytosis

•

en:abnormal liver enzymes (rare)

•

en:pyruvate-induced insulin secretion

•

en:neutrophilia, both basal and during infections

•

en:prolonged prothrombin time (pt)

•

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

•

en:plasma ammonia not elevated

•

en:phytanic acid accumulation

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

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

•

en:no evidence of common prenatal infections

•

en:normal to slightly elevated plasma cholesterol

•

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

•

en:normal free urinary cortisol

•

en:normal concentration of parathyroid hormone

•

en:normal baseline cortisol

•

en:hypogammaglobulinemia (in some patients)

•

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

•

en:hyperphosphatemia, transient

•

en:decreased apoa-i and apoa-ii

•

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

•

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

•

en:decreased numbers of t regulatory cells

•

en:decreased mitochondrial nadp(h)

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:decreased csf serine

•

en:decreased csf glycine

•

en:decreased circulating aldosterone level

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:decreased b cells

•

en:decreased axonal flare response after intradermal histamine injection

•

en:decreased activity of nadph oxidase

•

en:decreased plasma apolipoprotein c-ii

•

en:decreased activity of mitochondrial complex i

•

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

•

en:cytoplasmic lamellar concentric inclusions

•

en:cutaneous anergy

•

en:chondroitin 6-sulfate excretion in urine

•

en:calciuria

•

en:acth normal

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

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

•

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

•

en:absence of cd59 expression on red cells

•

en:hypermagnesemia

•

en:decreased plasmalogens

•

en:aldosterone level increased above normal

•

en:defect in chylomicron secretion

•

en:elevated white blood cell cystine

•

en:hyperlipidemia

•

en:deficiency of creatine phosphate in brain

•

en:hypercholesterolemia (in 75%)

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:hawkinsinuria

•

en:gaucher disease, type 1

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:fluorescence of red blood cells by uv microscopy

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

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

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:elevated erythrocyte adenosine deaminase activity

•

en:elevated sweat chloride

•

en:dyskinetic ciliary motility

•

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

•

en:distal xp22.3 segmental monosomy

•

en:elevated cerebrospinal fluid (csf) protein

•

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

•

en:elevated free carnitine

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:elevated plasma ammonia

•

en:elevated pregnenolone

•

en:elevated serum parathyroid hormone (pth) level

•

en:increased bone-specific alkaline phosphatase

•

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

•

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

•

en:increased plasma free cholesterol

•

en:increased plasma proglucagon

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased serum bilirubin due to hemolysis

•

en:increased serum c-reactive protein, episodic

•

en:increased serum transferrin

•

en:increased urinary isobutyryl glycine

•

en:increased total and conjugated bilirubin

•

en:increased urinary acetoacetic acid

•

en:increased urinary excretion of 4-hydroxybutyric acid (ghb)

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary methylcitrate

•

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

•

en:increased urinary propionyl glycine

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:hypoxemia

•

en:incresased urinary pyruvate

•

en:immotile or weakly motile cilia

•

en:galactosuria without galactosemia

•

en:hypoketotic hypoglycemia

•

en:fragmentation of the mitochondrial network

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

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

•

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

•

en:elevated ferritin l subunit

•

en:elevated inflammatory markers

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated plasma cholestanol

•

en:elevated serum iron

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:heparan sulfate excretion in urine

•

en:hypoglycemia, fasting

•

en:high ornithine

•

en:hyperammonemia after protein intake

•

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

•

en:hyperbilirubinemia in those with liver failure

•

en:hypercalciuria (in some patients)

•

en:hypercholesterolemia

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:hyperoxalaemia

•

en:hypogammaglobulinemia

•

en:intermittent severe hypoglycemia (in some patients)

•

en:pipecolic acid accumulation.

•

en:iron binding capacity total increased

•

en:serum cortisol decreased

•

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

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:pms show deficient oxidation of debrisoquine

•

en:raised c-reactive protein

•

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

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

en:reduced igg levels, particularly igg2 subclass

•

en:serum cholesterol low or normal

•

en:serum ferritin hyperglycosylation

•

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

•

en:serum transferrin glycosylation is normal

•

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

•

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

•

en:thyroid dyshormonogenesis 3

•

en:thyroid dyshormonogenesis 5

•

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

•

en:transferrin saturation increased

•

en:transient neonatal hypocalcemia (2p21del)

•

en:tyrosinemia

•

en:parathyroid hormone (pth) absent to low

•

en:organic aciduria

•

en:large spermatozoa

•

en:microdeletion 22q11.2

•

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

•

en:low 25-oh-vitamin d level

•

en:low ldl cholesterol

•

en:low or normal serum erythropoietin

•

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

•

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

•

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

•

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

•

en:marked hypobetalipoproteinemia

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:normal serum biotin concentration

•

en:mild hyperammonemia

•

en:mitochondrial complex i deficiency in muscle

•

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

•

en:monomeric igm

•

en:multiple autoantibodies

•

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

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:normal lysyl hydroxylase activity

•

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

•

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

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Génériques

[F] [H]

›

en:increased

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6880959 • caches: c1=44 c2=1172 c3=112

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