Diko : en:decreased serum c3 (atypical hus)

en:decreased serum c3 (atypical hus)

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C1856148

Associations d'idées

[F]

›

1000

en:normal or increased serum phosphate

•

en:hypercalciuria (in some patients)

•

en:normal serum phosphorus

•

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

•

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

•

en:increased serum levels of free plasma thyroid hormones

•

en:increased interleukin 10

•

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

•

en:glycogen accumulation in both liver and muscle

•

en:platelet count normal

•

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

•

en:creatine phosphokinase serum increased

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

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

•

en:absence of chylomicrons in lymph and plasma

•

en:abnormal cholesterol homeostasis

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:phytanic acid increased

•

en:increased plasma pristanic acid

•

en:premature chromosome condensation

•

en:decreased tissue total and free carnitine

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:prolidase deficiency

•

en:increased free cyanocobalamin in fibroblasts

•

en:elevated plasma campesterol

•

en:elevated csf/plasma glycine ratio

•

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

•

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

•

en:decreased serum levels of maoa products

•

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

•

en:accumulation of cholesterol esters in various tissues

•

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

•

en:abnormal liver function tests (in some patients)

•

en:thymic hormone decreased

•

en:decreased plasma esterified cholesterol

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:orotic aciduria

•

en:ketonuria, acute

•

en:increased urinary sulfatides

•

en:increased urinary carnitine

•

en:hyperhomocystinemia

•

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

•

en:electrolyte disturbances from intractable diarrhea

•

en:decreased or normal plasma insulin

•

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

•

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

•

en:aberrant gamma-interferon-mediated inflammation

•

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

•

en:p5c levels increased in urine

•

en:normal pyridinoline excretion in urine

•

en:aminoaciduria (less common)

•

en:increased serum s-adenosylhomocysteine

•

en:serum transferrin glycosylation is normal

•

en:elevated creatine kinase (in some patients)

•

en:normal collagen type i studies

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

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

•

en:serum thyroxine may be decreased or normal

•

en:increased interferon-alpha signal

•

en:incomplete n-glycosylation of cellular proteins

•

en:hypoprebetalipoproteinemia

•

en:glutaric acidemia type 1

•

en:elevated liver transaminases

•

en:increased csf interferon

•

en:low csf creatinine

•

en:prolonged partial thromboplastin time

•

en:normal number of t and b lymphocytes

•

en:mildly elevated hepatic enzymes

•

en:low maximal oxygen uptake on exercise testing

•

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

•

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

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:aprt deficiency measured in erythrocyte lysate

•

en:abnormal cardiolipin subspecies composition

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:reduced erythrocyte adenosine deaminase activity

•

en:urinary excretion of mucopolysaccharides

•

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

•

en:hyperglutaminemia

•

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

•

en:increased serum alanine

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased intracellular fmrp mrna

•

en:increased lactate in spinal fluid

•

en:hereditary angioedema

•

en:elevated il6

•

en:dyslipidemia

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

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

•

en:decreased serum 18-ohb

•

en:4-hydroxyphenylpyruvic aciduria

•

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

•

en:decreased mitochondrial complex iii activity in muscle

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:markedly reduced iga levels

•

en:reticulocyte count increased

•

en:unresponsive to acth stimulation

•

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

•

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

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:igg, decreased

•

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

•

en:intermittent 3-methylglutaconic aciduria

•

en:plasma ammonia not elevated

•

en:decreased plasminogen activity

•

en:positive kveim-siltzbach skin test

•

en:increased urinary citric acid cycle intermediates

•

en:plasma triglycerides increased

•

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

•

en:lactate dehydrogenase increased

•

en:cystathioninemia

•

en:increased serum and csf lactate

•

en:decreased plasma zinc levels

•

en:decreased or absent histidase activity

•

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

•

en:absence of beta-ureidopropionase activity and protein in liver biopsy

•

en:propionic acidemia

•

en:decreased activity of triosephosphate isomerase

•

en:prominent leukocytosis (30,000/ml)

•

en:hypocalcemia

•

en:tyrosinemia (transient, resolves in infancy)

•

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

•

en:increased csf pyruvic acid

•

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

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:elevated serum phosphate in heterozygotes

•

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

•

en:increased sodium-potassium pump activity

•

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

•

en:increased renal tubular phosphate reabsorption

•

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

•

en:decreased urinary calcium and phosphate excretion

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:glucosuria, mild, intermittent

•

en:hyperlipidemia

•

en:hypermethioninemia, progressive

•

en:hypogammaglobulinemia

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:pcs involves most of all chromosomes of a metaphase

•

en:triglyceride decreased

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:elevated urinary hyaluronic acid levels

•

en:increased urinary excretion of l-xylulose

•

en:multiple tissue biopsies show lysosomal storage disease

•

en:platelet factor 4 decreased

•

en:increased c10:2-carnitine

•

en:increased serum transferrin

•

en:increased plasma creatine

•

en:uremia

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:elevated cerebrospinal fluid (csf) protein

•

en:defect in retrograde intraflagellar transport in cilia

•

en:decreased s-ado:saicar ratio

•

en:phospholipid antibody positive

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:absent igg2 subclass

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:decreased serum igm

•

en:acylglycinuria

•

en:decreased uros activity (1 patient)

•

en:hypogammaglobulinemia, profound

•

en:increased serum lipoproteins

•

en:markedly increased serum creatine kinase

•

en:mild hyperammonemia

•

en:no chromosomal breakage

•

en:reticulocytosis

•

en:iodine depletion

•

en:thyroid dyshormonogenesis 4

•

en:oligospermia or azoospermia

•

en:normal total urinary coproporphyrin

•

en:normal or mildly reduced serum cobalamin

•

en:aminoaciduria (in some patients)

•

en:increased serum lactate hydrogenase

•

en:increased plasma renin activity

•

en:decreased serum iga

•

en:biotinidase deficiency

•

en:anti-iga antibodies commonly present

•

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

•

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

•

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

•

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

•

en:hyperlactemia

•

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

•

en:normal igg levels

•

en:little to absent aspartylglucosaminuria activity

•

en:increased serum ferritin (in some patients)

•

en:increased cholesterol

•

en:serum creatine kinase may be normal

•

en:hyperarginemia

•

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

•

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

•

en:decreased urinary sulfate

•

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

•

en:decreased or normal serum factor i

•

en:increased serum prostaglandin e2

•

en:hydroxyprolinuria

•

en:increased serum growth hormone levels

•

en:increased serum lactate

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased triglycerides (less common)

•

en:increased serum vitamin b12

•

en:increased tissue levels of free fatty acids

•

en:increased urinary acetoacetic acid

•

en:increased uric acid level

•

en:increased urinary, plasma, and csf dihydrouracil

•

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

•

en:increased serum creatine kinase during episodes

•

en:increased serum direct bilirubin

•

en:increased fas ligand

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased serum 1,25-dihydroxyvitamin d3

•

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

•

en:increased plasma and urinary pipecolic acid

•

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

•

en:increased free erythrocyte protoporphyrin

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:increased csf protein during acute illness

•

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

•

en:igm deficiency

•

en:hypermagnesemia

•

en:hypercholesterolemia (in 75%)

•

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

•

en:increased urinary magnesium

•

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

•

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

•

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

•

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

•

en:smooth muscle antibodies positive

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:skewed x-inactivation in females

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:serum iron raised

•

en:serum creatine kinase may be normal or elevated

•

en:serum albumin low result

•

en:reduced bending capacity of cilia

•

en:platelet function test normal

•

en:plasma aldosterone normal

•

en:plasmalogen deficiency

•

en:phosphorylase kinase normal in muscle

•

en:hepatic ornithine transcarbamylase deficiency

•

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

•

en:increased urinary sulfite

•

en:occasionally mild elevation of csf protein

•

en:no ketosis

•

en:no increased sensitivity to oxidative species

•

en:no hematuria

•

en:multi-tailed spermatozoa

•

en:mild elevation of transaminases

•

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

•

en:low serum ceruloplasmin

•

en:low alkaline phosphatase

•

en:intracellular accumulation of unesterified cholesterol

•

en:intermittent increase of urinary ethylmalonic acid

•

en:intermittent dicarbonic aciduria

•

en:intermediate level of cellular sensitivity to uv light

•

en:increased urinary vanillylmandelic acid (vma)

•

en:high deoxypyridinoline/creatinine (in some patients)

•

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

•

en:heparan sulfate excretion in urine

•

en:antithrombin iii deficiency

•

en:decreased leptin

•

en:decreased hdl cholesterol

•

en:decreased eno3 activity

•

en:decreased cerebrospinal fluid folic acid

•

en:decreased c3 activity

•

en:decreased activity of thymidine phosphorylase

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

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

•

en:d-2-hydroxyglutaric aciduria

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:chondroitin 4-, 6-sulfate excretion in urine

•

en:bile contains cholesterol crystals

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

en:aneuploidy of the x chromosome

•

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

•

en:aminoaciduria (rare)

•

en:alpha fetoprotein increased

•

en:alpha-fetoprotein normal

•

en:alkaline phosphatase serum increased

•

en:absent axonal flare response after intradermal histamine injection

•

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 liver function test

•

en:abnormal liver enzymes, episodic

•

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

•

en:abnormal dystrophin on muscle biopsy

•

en:transaminitis

•

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

•

en:decreased or absent ciliary motility

•

en:hematuria

•

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

•

en:green serum

•

en:gonadotrophin increased

•

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

•

en:frequent inv(10)(q11.2q21) producing chimeric transforming sequence ret/ptc

•

en:fragmentation of the mitochondrial network

•

en:fasting ketosis

•

en:enzyme replacement therapy has not been effective

•

en:elevated urinary ornithine, lysine, arginine

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:elevated urinary 3-methylglutaconate

•

en:elevated serum levels of adenosine

•

en:elevated pth (parathyroid hormone)

•

en:elevated plasma desmosterol

•

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

•

en:decreased or increased serum testosterone

•

en:elevated afp (endodermal sinus tumor)

•

en:elevated 8-dehydrocholesterol

•

en:dhea sulfotransferase below limit of detection

•

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

•

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

•

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

•

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

•

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

•

en:decreased sulfite oxidase activity

•

en:decreased serum thiamine pyrophosphate

•

en:decreased serum b12 levels

•

en:decreased red cell pyruvate kinase activity

•

en:decreased plasma serine

•

en:decreased plasma free carnitine

•

en:sterol 27-hydroxylase deficiency

•

en:decreased nasal nitric oxide

•

en:transferase deficiency galactosemia

•

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

•

en:molybdenum cofactor deficiency

•

en:methemoglobin concentration 12 to 19%

•

en:median mean platelet volume 13fl

•

en:low to very low hdl cholesterol

•

en:low plasma free and total carnitine

•

en:low ldl cholesterol

•

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

•

en:low-molecular-weight proteinuria

•

en:lack of lysosomal inclusions in visceral organs

•

en:iron overload (in some patients)

•

en:increased urinary urate

•

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

•

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

•

en:increased uric acid with exercise

•

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

•

en:increased tissue levels of triglycerides

•

en:increased serum unconjugated bilirubin

•

en:increased serum lactate (mild)

•

en:increased serum gamma-ggt (231950)

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased levels of carcinoembryonic antigen

•

en:increased ige level

•

en:increased gamma-interferon

•

en:increased erythrocyte sedimentation rate, episodic

•

en:increased csf protein

•

en:impaired mitochondrial translation

•

en:immunoglobulin antibodies present

•

en:hyponatremia

•

en:neutropenia

•

en:normal apoa-ii levels in homozygotes

•

en:hypoalbuminemia

•

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

•

en:vitamin b12 deficiency (uncommon)

•

en:transient eosinophilia in first decade

•

en:vacuolated lymphocytes

•

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

•

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

•

en:uric acid normal

•

en:tyrosinemia

•

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

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:shortened telomeres (1 patient)

•

en:severely decreased palmitate oxidation

•

en:serum calcium elevated

•

en:serum aldosterone elevated

•

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

•

en:normal eosinophil peroxidase activity

•

en:prothrombin time increased

•

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

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:patient cells show abnormal mitochondrial morphology

•

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

•

en:parathyroid hormone normal

•

en:parathyroid hormone (pth) absent to low

•

en:no lactic acidosis

•

en:normal tyrosinase

•

en:normal serum cobalamin (vitamin b12)

•

en:normal lysyl hydroxylase activity

•

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

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:normal exocrine pancreatic function

•

en:hypoglycosylated serum transferrin

•

en:multiple autoantibodies

•

en:hyperprolinemia type 1

•

en:aldolase a deficiency

•

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

•

en:decreased csf glycine

•

en:decreased c3 antigen

•

en:decreased axonal flare response after intradermal histamine injection

•

en:decreased adenosylcobalamin

•

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

•

en:decreased activity of dihydrofolate reductase

•

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

•

en:complex organic aciduria

•

en:chondroitin 6-sulfate excretion in urine

•

en:axonemes show normal structure

•

en:anomalies of cholesterol levels

•

en:aldosterone level increased above normal

•

en:absent axonal flare response to intradermal histamine injection

•

en:decreased methionine synthase activity

•

en:abnormal oral glucose tolerance

•

en:abnormal liver enzymes (1 patient)

•

en:abnormal lipid profile

•

en:3-methylglutaric aciduria

•

en:3-methylglutaconic aciduria

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:widespread interstitial fibrosis (visceral organs)

•

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

•

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

•

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

•

en:type iii collagen defect

•

en:hyperammonemia, episodic

•

en:tsh decreased

•

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

•

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

•

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

•

en:high m-component

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:decreased or absent glycogen branching enzyme activity

•

en:high ebv viral load

•

en:hepatic gamma-cystathionase deficiency

•

en:heparin cofactor ii deficiency (disorder)

•

en:hemizygous deletion at 7q11.23

•

en:glutathione deficiency

•

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

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:elevated pyruvate (in most patients)

•

en:elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia)

•

en:epstein-barr viraemia

•

en:elevated alkaline phosphatase

•

en:defect in dna repair

•

en:decreased phk activity in liver

•

en:elevated 1,25(oh)2 d3

•

en:decrease plasma serine (fasting)

•

en:defective dna repair after ultraviolet radiation damage

•

en:defective mitochondrial respiratory enzyme activity

•

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

•

en:deficiency of alpha-1,4-glucosidase (acid maltase)

•

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

•

en:deficiency or absence of p22-phox protein

•

en:homocysteinemia (in some patients)

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:dermatan sulfate excretion in urine

•

en:low or absent prolactin (pl)

•

en:increased urinary 2-methylacetoacetic acid

•

en:low or undetectable insulin

•

en:low fasting glucose (in some patients)

•

en:iron deficiency

•

en:increased urinary phospholipids

•

en:increased urinary hypoxanthine

•

en:increased urinary glutaric acid

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased urinary 3-oh-propionic acid

•

en:increased urinary 2-methylbutyryl glycine

•

en:kypokalemia

•

en:increased gamma-aminobutyric acid in plasma, urine, and cerebrospinal fluid (csf)

•

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

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased serum uric acid

•

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

•

en:increased serum parathyroid hormone (pth)

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:increased serum bilirubin due to hemolysis

•

en:increased serum arylsulfatase a.

•

en:increased serum and urinary lactate

•

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

•

en:increased plasma phytanic acid

•

en:increased plasma homogentisic acid (hga)

•

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

•

en:low serum levels of branched-chain amino acids

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:low serum alkaline phosphatase in heterozygotes

•

en:sialylation defects

•

en:low urinary cyclic amp response to pth administration

•

en:normocalcemia

•

en:increased creatine kinase, mild to moderate

•

en:subtelomeric deletion of chromosome 16p

•

en:severe hypernatremia in neonatal period

•

en:serum c-peptide and glucagon levels measurable

•

en:reduced total and free carnitine in plasma and tissue

•

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

•

en:reduced ige levels

•

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

•

en:positive urine dnph screening test

•

en:platelet aggregation decreased

•

en:plasma catecholamines decreased

•

en:parathyroid hormone-related peptide (pthrp) absent to low

•

en:organic aciduria, mild (in some patients)

•

en:no cartilage staining with toluidine blue

•

en:normal urinary orotic acid

•

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

•

en:normal serum liver enzymes

•

en:normal serum complement levels

•

en:normal serum cobalamin

•

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

•

en:normal or increased serum phytanic acid

•

en:normal constitutional karyotype

•

en:normal ciliary structure and function

•

en:nonketotic hypoglycemia

•

en:neutropenia (in 1 patient)

•

en:neonatal hypocalcemia

•

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

•

en:mild eosinophilia may occur

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:increased csf and plasma ghb

•

en:accumulation of unprocessed mt-trna intermediates in skeletal muscle cells and fibroblasts

•

en:increased alpha-fetoprotein (1 patient)

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:decreased respiratory chain complex iii activity in multiple tissues

•

en:decreased or absent gch1 activity

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased fbp1 enzyme activity

•

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

•

en:decreased decr enzyme activity

•

en:decreased cpt1 activity

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased aminoacylase-1 activity

•

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

•

en:decreased activity of mitochondrial respiratory complexes

•

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

•

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

•

en:contiguous gene deletion syndrome

•

en:decreased telomerase activity

•

en:citrullinemia

•

en:cilia show inner and outer dynein arm defects

•

en:chromosomal rearrangement

•

en:cholesterol low

•

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

•

en:calcium normal

•

en:b lymphocytopenia

•

en:aminoaciduria, mild (in some patients)

•

en:aldosterone concentration below normal

•

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

•

en:adenylosuccinase deficiency (finding)

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

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

•

en:undetectable urinary hypoxanthine

•

en:decreased serum 25-hydroxyvitamin d

•

en:decreased testosterone level

•

en:increased 18-oxocortisol

•

en:hemoglobin decreased

•

en:increased 11-deoxycorticosterone

•

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

•

en:inappropriately normal to low-normal serum 1,25-dihydroxyvitamin d3

•

en:inappropriately normal or increased plasma hepcidin

•

en:immotile or weakly motile cilia

•

en:i-cell disease

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hypocalcemia (male)

•

en:hyperlipoproteinemia type iib

•

en:hyperglycinuria (disorder)

•

en:hyperchloremia (mean 111 mm)

•

en:high plasma triglyceride levels

•

en:hereditary xanthinuria

•

en:glyoxalase deficiency

•

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

•

en:glycogen storage disease type vi

•

en:foam cells in bone marrow and renal glomeruli

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

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

•

en:elevated serum bile acids

•

en:elevated resting serum lactate, increased with exercise

•

en:elevated plasma propionylcarnitine

•

en:elevated plasma and urine succinylacetone

•

en:elevated hcg (choriocarcinoma)

•

en:elevated gamma-glutamyltransferase (ggt)

•

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

•

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

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

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

•

en:low acth level

•

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

•

en:low-to-normal platelet count

•

en:normal csf neurotransmitters

•

en:normal cerebrospinal fluid

•

en:neutrophilia, both basal and during infections

•

en:myoglobinuria after exertion

•

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

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:low to normal serum calcium

•

en:low to low-normal magnesium

•

en:low serum igg and iga

•

en:low plasma methionine

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:low free carnitine

•

en:lactic acidosis

•

en:normal phytanic acid

•

en:lack of ciliary motility

•

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

•

en:increased urine vanillactic acid (vla)

•

en:increased urine oligosaccharides

•

en:increased urinary thymine

•

en:increased urinary methylcitrate

•

en:increased urinary hga

•

en:increased urinary and serum glycine

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased urinary 2-butanone

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased transferrin saturation (>60%)

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased serum manganese

•

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

•

en:normal serum and mucosal iga

•

en:increased serum glycerol

•

en:rheumatoid factor negative

•

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

•

en:hemolytic uremic syndrome, atypical, susceptibility to, 1

•

en:very low igg

•

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

•

en:urine uric acid decreased

•

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

•

en:shortened telomeres (in 1 of 2 patients)

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum phosphate concentration below normal

•

en:serum creatine kinase may be normal or increased

•

en:serum cortisol decreased

•

en:serum and csf lactate may be increased

•

en:schirmer test shows alacrima

•

en:reduced unsaturated serum cobalamin binding capacity

•

en:normal serum creatine kinase

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

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

•

en:prolonged partial thromboplastin time (ptt)

•

en:postprandial hyperglycemia (early in disease course)

•

en:pink urine

•

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

•

en:paraproteinemia

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:no mucopolysacchariduria

•

en:no hyperuricemia

•

en:no evidence of perinatal infection

•

en:normal serum phytanic and pristanic acid

•

en:normal serum lipoprotein levels

•

en:increased serum lactate in acute stage

•

en:translocation of chromosomes 9 and 13

•

en:increased serum ammonia (group b)

•

en:creatine phosphokinase increased

•

en:defective bile acid metabolism

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:decreased serum factor b (atypical hus)

•

en:decreased platelet derived growth factor

•

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

•

en:decreased or absent serum citrulline

•

en:decreased iga, igg, igm

•

en:decreased fibrillin-1 immunostaining in the dermis

•

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

•

en:decreased b cells

•

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

•

en:decreased acid beta galactosidase protein and activity

•

en:cytoplasmic lamellar concentric inclusions

•

en:creatine kinase levels may normalize with disease progression

•

en:dehydration

•

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

•

en:calciuria

•

en:atrial abnormalities on electrocardiogram

•

en:antithrombin iii decreased

•

en:anti-factor viii positive

•

en:alanine aminotransferase increased

•

en:absence of cpt ii protein

•

en:abnormal transaminases (1 patient)

•

en:abnormal secretin test

•

en:abnormal nasal potential difference

•

en:abetalipoproteinemia (lab finding)

•

en:2-aminoadipic aciduria

•

en:increased serum acylcarnitine during febrile crisis

•

en:very low iga

•

en:defect in oxidative phosphorylation

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:deletion of chromosome 18p11.2

•

en:high plasma asparagine

•

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

•

en:disorganized growth plate cartilage

•

en:increased plasma lactate

•

en:increased plasma proinsulin

•

en:increased 18-ohb to aldosterone ratio

•

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

•

en:impaired platelet aggregation

•

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

•

en:hypokalemia

•

en:hyperuricosuria

•

en:hypertryptophanemia

•

en:hyperinsulinemia

•

en:hyperchloremia (mean 109 mm)

•

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

•

en:high nonceruloplasmin-bound serum copper

•

en:elevated serum angiotensin-converting enzyme (ace)

•

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

•

en:hereditary fructose intolerance

•

en:elevated biopterin in csf

•

en:elevated androstenedione and testosterone

•

en:elevated serum acid phosphatase

•

en:elevated plasma alloisoleucine

•

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

•

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

•

en:ethylmalonic aciduria

•

en:hb h erythrocyte inclusions

•

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

•

en:fucosidosis

•

en:gm2-ganglioside accumulation

•

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

•

en:ketoses, metabolic

•

en:lack of excessive parenchymal iron storage

•

en:low urinary orotic acid

•

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

•

en:low rai (radioactive iodine) uptake

•

en:methionine adenosyltransferase deficiency

•

en:marked elevation of erythrocyte sedimentation rate

•

en:median mean platelet volume (mpv) 20fl

•

en:methemoglobinemia

•

en:keratan sulfaturia in some patients

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:isovalericaciduria

•

en:iron low

•

en:indirect bilirubin increased

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

en:increased urinary dihydropyrimidines

•

en:increased urinary 3-methylcrotonylglycine

•

en:increased serum total cholesterol

•

en:increased serum thyroid-stimulating hormone (tsh)

•

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

•

en:increased serum glutamine

•

en:increased serum ferritin

•

en:increased serum beta-carotene

•

en:increased pyruvate in serum and csf

•

en:increased il18

•

en:mildly elevated blood ammonia

•

en:relatively low urinary pge-m levels

•

en:mitochondrial deletions

•

en:rhabdomyolysis in response to alcohol

•

en:vitamin d deficiency

•

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

•

en:variable hypoglycemia

•

en:type i, classic, decreased antithrombin iii levels

•

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

•

en:structural abnormalities seen on chromosome analysis

•

en:serum thiamine is normal

•

en:serum prolactin decreased

•

en:serum osmolality decreased

•

en:serum folate normal

•

en:serum creatine kinase may be increased

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

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

•

en:monoclonal gammopathy

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:protein urine absent

•

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

•

en:patient cells show a defect in transcription-coupled and global genome nucleotide excision repair

•

en:no chromosome breakage

•

en:normal transferrin saturation

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal prolyl 4-hydroxylase activity

•

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

•

en:normal isoelectric focusing of serum transferrin

•

en:normal igm levels

•

en:nadh-cytochrome b(5) reductase deficiency

•

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

•

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

•

en:decreased nk cells (in some patients)

•

en:hypoproteinemia due to hypercatabolism

•

en:chromosomal mosaicism in cultured cells

•

en:decreased hexokinase activity in red blood cells

•

en:decreased csf homovanillic acid (hva)

•

en:decreased csf arginine

•

en:decreased circulating cortisol level

•

en:decreased beta-oxidation of pristanic acid

•

en:decreased beta-galactosidase activity

•

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

•

en:decreased arylsulfatase a (arsa) activity in urine, leukocytes, fibroblasts

•

en:decreased activity of phosphoglycerate kinase 1

•

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

•

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

•

en:chronic hypercapnia

•

en:cells show increased sensitivity to ionizing radiation

•

en:decreased insulin receptor binding

•

en:bone marrow hypoplasia (in some patients)

•

en:blood glucose normal

•

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

•

en:alkaline phosphatase decreased

•

en:accumulation of guanidinoacetate in brain

•

en:abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and brainstem

•

en:abnormal serum liver enzyme levels

•

en:abnormal phosphatidylglycerol profile (increased 34-to-1 and decreased 36-to-1 ratio)

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:4-hydroxyphenyllactic aciduria

•

en:2,8-dihydroxyadenine (dha) urinary stones

•

en:4-hydroxyphenylactic aciduria

•

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

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:hypercholesterolemia (10%)

•

en:exercise-induced myoglobinuria in adults

•

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

•

en:hypercalciuria

•

en:homocystinuria (in some patients)

•

en:high plasma citrulline (100-300 micromolar)

•

en:high ornithine

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

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

•

en:galactosyltransferase i deficiency in fibroblasts

•

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

•

en:ferritin decreased

•

en:fasting hyperinsulinemia

•

en:farber lipogranulomatosis

•

en:excessive urinary 5-oxo-l-proline

•

en:decreased phgdh activity (fibroblasts)

•

en:elevated urinary mevalonic acid

•

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

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated propionate

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated plasma ammonia

•

en:elevated ferritin l subunit

•

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

•

en:elevated calcitonin

•

en:deficient efflux of intracellular cholesterol

•

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

•

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

•

en:decreased serum factor h (atypical hus)

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:elevated plasma citrulline (citrullinemia)

•

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

•

en:increased urinary glycerol

•

en:mildly elevated hdl in heterozygotes

•

en:methioninuria

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:metachromasia of white blood cells and fibroblasts

•

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

•

en:low serum uric acid

•

en:abnormal liver enzymes, intermittent

•

en:low serum alpha-fetoprotein (recessive)

•

en:low or undetectable c-peptide

•

en:leukocytosis

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:increased urinary isobutyryl glycine

•

en:increased urinary fumaric acid

•

en:n-glycosylation defect

•

en:increased urinary 7-biopterin (primapterin)

•

en:increased serum pyruvate in acute stage

•

en:increased serum pyruvate

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum creatine kinase in acute stage

•

en:increased serum creatine kinase (patient a)

•

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

•

en:increased plasma pipecolic acid

•

en:increased plasma phospholipids

•

en:increased plasma branched-chain fatty acids

•

en:increased osmotic fragility

•

en:increased il1b increased soluble il2r

•

en:mildly increased serum lactate

•

en:neonatal hyperbilirubinemia

•

en:increased activity of the prpp synthetase 1 enzyme

•

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

•

en:vitamin k deficiency

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:t cells may be increased or decreased

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

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

•

en:thyroid dyshormonogenesis 5

•

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

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:serum lactate is usually normal

•

en:serum ferritin hyperglycosylation

•

en:serum cholesterol low or normal

•

en:proper antibody response to protein vaccinations

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:normal-elevated plasma testosterone (male range)

•

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

•

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

•

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

•

en:phytanic acid accumulation

•

en:phosphorylase kinase deficiency in liver and muscle

•

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

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:occasional hypomagnesemia

•

en:no dicarboxylic aciduria

•

en:normal sweat electrolytes

•

en:normal serum biotin concentration

•

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

•

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

•

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

•

en:low serum calcium

•

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

•

en:decreased apoa-i and apoa-ii

•

en:decreased serum androgens

•

en:decreased renal calcium excretion

•

en:decreased plasma triglycerides

•

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

•

en:decreased plasmalogens

•

en:decreased or normal serum c3

•

en:decreased neopterin and biopterin in urine

•

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

•

en:decreased fumarate hydratase activity

•

en:decreased csf serine

•

en:decreased csf hypocretin

•

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

•

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

•

en:decreased serum factor i (atypical hus)

•

en:continuous urinary iodine loss

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:borderline elevated low-density lipoprotein

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

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

•

en:hyposialylation of o-linked serum glycans

•

en:absent 7-dehydrocholesterol

•

en:absence of cd59 expression on red cells

•

en:abnormal urinary organic acids

•

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

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

en:abnormal liver function tests (sgot, sgpt)

•

en:decreased serum cobalamin

•

en:absent or severely reduced levels of serum immunoglobulins

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:elevated urinary 3-methylglutarate

•

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

•

en:hypoproteinemia (in 1 patient)

•

en:hypomagnesemia

•

en:hypocalciuria

•

en:hyperoxaluria

•

en:hypermagnesiuria

•

en:hypercholesterolemia (disorder)

•

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

•

en:high sweat sodium and chloride

•

en:fumarase deficiency

•

en:factor vii deficiency

•

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

•

en:hypertriglyceridemia (in some patients)

•

en:elevated total bilirubin

•

en:elevated 2-ketoglutarate (urine)

•

en:elevated sweat chloride (some)

•

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

•

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

•

en:duplication or deletion at 11p15.5

•

en:disseminated intravascular coagulation

•

en:elevated ammonia

•

en:elevated dihydrobiopterin in csf

•

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

•

en:elevated hepatic transaminases

•

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

•

en:elevated sed rate

•

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

•

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

•

en:low serum acth

•

en:normal lysl hydroxylase activity

•

en:normal csf 5-hiaa

•

en:myelin basic protein measurement, spinal fluid

•

en:median mean platelet volume (mpv) 18fl

•

en:mean platelet volume (mpv) 12.6fl

•

en:marked hypobetalipoproteinemia

•

en:low serum levels of ketone bodies

•

en:isochromosome often missing in lymphocyte

•

en:low plasma tryptophan (inflammatory type b)

•

en:low or absent iga levels

•

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

•

en:low cholesterol esterification rates

•

en:liver transaminases normal to slightly increased

•

en:karyomegaly may be found in other visceral organs

•

en:incresased urinary pyruvate

•

en:increased urinary taurine

•

en:increased urinary propionyl glycine

•

en:normal serum parathyroid hormone (pth)

•

en:normal renin level

•

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

•

en:no evidence of common prenatal infections

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:very low leptin level

•

en:variable hyperlipidemia

•

en:urine cortisol, increased

•

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

•

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

•

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

•

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

•

en:thyroid dyshormonogenesis 3

•

en:saposin a deficiency (finding)

•

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

•

en:no ketonuria

•

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

•

en:protein total decreased

•

en:prolonged prothrombin time (pt)

•

en:prolinuria

•

en:pipecolic acid accumulation.

•

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

•

en:orotic acid crystalluria

•

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

•

en:organic aciduria

•

en:increased urinary malic acid

◀

Génériques

[F] [H]

›

en:decreased

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845603 • caches: c1=50 c2=1286 c3=12

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