Diko : en:low alkaline phosphatase

en:low alkaline phosphatase

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1860130

Associations d'idées

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1000

en:serum albumin low result

•

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

•

en:increased serum butyryl carnitine

•

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

•

en:elevated crp

•

en:increased plasma free cholesterol

•

en:low cholesterol esterification rates

•

en:normal exocrine pancreatic function

•

en:elevated serum phosphorus

•

en:uric acid normal

•

en:chromosomal breakage and abnormalities of the juxtacentromeric regions of chromosomes 1, 9, and 16

•

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

•

en:defective bile acid metabolism

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:eosinophilia

•

en:absent platelet agglutination in presence of ristocetin

•

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

•

en:median mean platelet volume (mpv) 18fl

•

en:low or low-normal serum t4

•

en:lactic acidemia (2p21del)

•

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

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:borderline elevated low-density lipoprotein

•

en:alpha ketoadipic aciduria

•

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

•

en:normal renin level

•

en:normal axonal flare response after intradermal histamine injection

•

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

•

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

•

en:serum thiamine is normal

•

en:pyruvic acidemia

•

en:normal sweat chloride (3 of 3 patients)

•

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

•

en:increased urinary taurine

•

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

•

en:elevated total bilirubin

•

en:elevated liver enzymes

•

en:defect in mitochondrial and peroxisomal fission

•

en:aneuploidy of the x chromosome

•

en:abnormal liver function tests (less common)

•

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

•

en:increased urinary sialylglycopeptides

•

en:aldolase a deficiency

•

en:decreased plasminogen activity

•

en:decreased tetrasialo-transferrin

•

en:elevated calcitonin

•

en:elevated plasma desmosterol

•

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

•

en:increased urinary 3-oh-propionic acid

•

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

•

en:normal serum transferrin profiles

•

en:low serum uric acid

•

en:schirmer test shows alacrima

•

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

•

en:increased csf pyruvic acid

•

en:increased urinary neopterin

•

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

•

en:normal blood lactate

•

en:normal igm levels

•

en:parathyroid hormone normal

•

en:elevated circulating parathyroid hormone (pth) level

•

en:hyperammonemia after protein intake

•

en:euvolemia

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:increased platelet aggregation with ristocetin

•

en:decreased scad activity

•

en:decreased csf hypocretin

•

en:blood pyruvic acid increased

•

en:antineutrophil antibody positivity

•

en:inappropriately normal or increased plasma hepcidin

•

en:abnormal liver function tests (sgot, sgpt)

•

en:increased urinary acetoacetic acid

•

en:elevated plasma alloisoleucine

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

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

•

en:increased serum ferritin (in some patients)

•

en:green urine

•

en:myoglobinuria with extreme exertion

•

en:amylo-1,6-glucosidase deficiency

•

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

•

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

•

en:occasional hypomagnesemia

•

en:abnormal transferrin isoelectric focusing (ief)

•

en:increased serum alpha-mannosidase

•

en:thyroid hormone organification defect

•

en:iron low

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

en:increased serum beta-carotene

•

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

•

en:decreased transcobalamin i in saliva, serum, gastric juice, and cerebrospinal fluid

•

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

•

en:bicarbonaturia

•

en:accumulation of cholesterol esters in various tissues

•

en:alpha-fetoprotein normal

•

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

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:b lymphocytopenia

•

en:low to normal plasma methionine

•

en:tyrosine loss

•

en:peroxisome deficiency

•

en:microtubule disorganization in some cilia

•

en:methylsuccinic aciduria

•

en:prolonged partial thromboplastin time

•

en:low growth hormone levels

•

en:hyperprolinemia (10-15 times normal)

•

en:gm2-ganglioside accumulation

•

en:fibrinogen decreased

•

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

•

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

•

en:hemoglobin decreased

•

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

•

en:increased serum bilirubin due to hemolysis

•

en:impaired n-glycosylation

•

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

•

en:glucosuria, mild, intermittent

•

en:fasting hyperinsulinemia

•

en:decreased mucosal alkaline phosphatase

•

en:decreased csf glycine

•

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

•

en:increased urinary hypoxanthine

•

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

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:homocitrullinuria

•

en:reactive hypoglycemia

•

en:serum and csf lactate may be increased

•

en:partial deficiency of factor xi (less common)

•

en:median mean platelet volume (mpv) 20fl

•

en:pcs involves most of all chromosomes of a metaphase

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:elevated acth

•

en:decreased transferrin increased serum iron

•

en:t cells may be increased or decreased

•

en:thyroid dyshormonogenesis 3

•

en:absent igg2 subclass

•

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

•

en:decreased plasmalogens

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:homocystinuria (in some patients)

•

en:normal pyridinoline excretion in urine

•

en:no dicarboxylic aciduria

•

en:proteinuria in those with cystic kidneys

•

en:abnormally low cerebrospinal fluid cystatin c

•

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

•

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

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased susceptibility to ebv infection

•

en:little to absent aspartylglucosaminuria activity

•

en:liver transaminases normal to slightly increased

•

en:low fasting glucose (in some patients)

•

en:no elevation of free fatty acids

•

en:elevated alkaline phosphatase (in one patient)

•

en:increased serum creatine kinase during episodes

•

en:no c8 antigen detected

•

en:marked hypobetalipoproteinemia

•

en:low or absent follicle stimulating hormone (fsh)

•

en:increased urinary citric acid cycle intermediates

•

en:absent dystrophin on muscle biopsy

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:elevated cerebrospinal fluid (csf) protein

•

en:decreased levels of cpt2 protein

•

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

•

en:abnormal extrarenal response to ddavp (no increase in von willebrand factor or factor viii)

•

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

•

en:serum transferrin glycosylation is normal

•

en:intermittent ethylmalonic aciduria

•

en:cells show increased sensitivity to ionizing radiation

•

en:homocystinuria

•

en:prolonged prothrombin and partial thromboplastin times

•

en:increased peripheral blood monocytes

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

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

•

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

•

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

•

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

•

en:decreased or absent pts activity

•

en:decreased levels of csf hypocretin (hcrt, 602358)

•

en:decreased fibrinogen (in some patients)

•

en:cytogenetic deletion of the terminal region of chromosome 10 (del(10)(q23.3-qter))

•

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

•

en:low serum acth

•

en:karyotype analysis normal finding

•

en:ketonuria, acute

•

en:low csf creatine

•

en:low plasma tryptophan (inflammatory type b)

•

en:monomeric igm

•

en:low to normal serum calcium

•

en:lysine-ketoglutarate reductase deficiency

•

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

•

en:mildly elevated hdl in heterozygotes

•

en:molybdenum cofactor deficiency

•

en:increased urinary lactate

•

en:intermittent dicarbonic aciduria

•

en:increased plasma long-chain acylcarnitines

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum uric acid

•

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

•

en:increased serum acylcarnitines

•

en:increased renal tubular phosphate reabsorption

•

en:normal baseline cortisol

•

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

•

en:increased il6, episodic

•

en:increased hepatic parenchymal cell stainable iron

•

en:increased csf and plasma ghb

•

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

•

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

•

en:neutropenia

•

en:normal tyrosinase

•

en:normal cerebrospinal fluid

•

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

•

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

•

en:very low leptin level

•

en:variable respiratory chain enzyme deficiency

•

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

•

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

•

en:unprocessed 3-oxoacyl coa thiolase

•

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

•

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

•

en:severely decreased palmitate oxidation

•

en:serum ferritin hyperglycosylation

•

en:serum cortisol decreased

•

en:serum cholesterol raised

•

en:reduced serum uric acid

•

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

•

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

•

en:proteinuria

•

en:prolonged activated partial thromboplastin time (aptt)

•

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

•

en:positive antinuclear antibody test

•

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

•

en:partial deficiency of factor xiii (less common)

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:organic aciduria

•

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

•

en:increased ammonia with exercise

•

en:normal to slightly elevated plasma cholesterol

•

en:normal to increased plasma glycine

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

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

•

en:increased bile acid intermediates (dhca and thca)

•

en:hyperkalemia during attacks

•

en:increased 18-hydroxycortisol

•

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

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

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

•

en:decreased or absent glycogen branching enzyme activity

•

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

•

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

•

en:decreased fibroblast alpha-mannosidase

•

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

•

en:decreased csf serine

•

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

•

en:decreased c3 antigen

•

en:decreased b cells

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:decreased activity of mitochondrial respiratory chain complex i

•

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

•

en:decreased serum carnitine in acute stage

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:atrial abnormalities on electrocardiogram

•

en:anomalies of cholesterol levels

•

en:alanine aminotransferase increased

•

en:abnormal urinary organic acids

•

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

•

en:abnormal phospholipid profile

•

en:abnormal oral glucose tolerance

•

en:abnormal liver enzymes (rare)

•

en:abnormal liver enzymes, intermittent

•

en:abnormal lipid profile

•

en:abnormal liver enzymes (in some patients)

•

en:decreased renal calcium excretion

•

en:decreased serum cholesterol (in some)

•

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

•

en:ferritin decreased

•

en:inappropriately increased urine osmolality

•

en:igm deficiency

•

en:hypoglycorrhachia (low glucose in csf)

•

en:hyperthreoninuria

•

en:hypercalciuria (in some patients)

•

en:hyperbilirubinemia

•

en:homocysteinemia

•

en:high ft3/ft4 ratio

•

en:hepatic ornithine transcarbamylase deficiency

•

en:hemizygous deletion at 4p16.3

•

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

•

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

•

en:folate-dependent fragile site at xq28

•

en:fasting ketosis

•

en:decreased sulfite oxidase activity

•

en:farber lipogranulomatosis

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated erythrocyte sedimentation rate (esr)

•

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

•

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

•

en:distal xp22.3 segmental monosomy

•

en:diminished lymphocyte response to phytohemaglutinin

•

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

•

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

•

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

•

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

•

en:defective glcnac-pi synthesis

•

en:decreased thrombospondin

•

en:3-methylglutaric aciduria (3-mga)

•

en:decreased serum factor i (atypical hus)

•

en:abnormal n-glycosylation of transferrin

•

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

•

en:metabolic acidosis

•

en:median mean platelet volume (mpv) 12.5fl

•

en:may have increased serum parathyroid hormone (pth)

•

en:low serum ceruloplasmin

•

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

•

en:low or absent growth hormone (gh)

•

en:low leukocyte alkaline phosphatase activity

•

en:low 25-oh-vitamin d level

•

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

•

en:long-chain ketonuria

•

en:keratan sulfate excretion in urine that decreases with age

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:increased urinary excretion of cystine

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:mildly elevated hepatic enzymes

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased urinary 2-butanone

•

en:increased serum gamma-ggt (231950)

•

en:increased serum beta-hexosaminidase

•

en:increased serum and csf glycine

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased neopterin in urine and csf

•

en:increased il1b increased soluble il2r

•

en:increased excretion of urobilinogen

•

en:increased disialotransferrin and asialotransferrin levels

•

en:increased csf glycine

•

en:increased creatine kinase (ck)

•

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

•

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

•

en:mitochondria dna deletion

•

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

•

en:raised tsh level

•

en:very low iga

•

en:variable hypoglycemia

•

en:undetectable urinary hypoxanthine

•

en:abnormal serum glycoproteins

•

en:serum iron raised

•

en:serum creatinine raised

•

en:serum corticosterone increased

•

en:serum calcitonin, increased

•

en:serum alkaline phosphatase normal or mildly increased

•

en:serum acid phosphatase normal

•

en:rhabdomyolysis in response to alcohol

•

en:reduced erythrocyte gs activity

•

en:reduced bending capacity of cilia

•

en:prolonged bleeding time

•

en:neonatal hypocalcemia

•

en:presence of serum anti-lu3 antibodies

•

en:positive kveim-siltzbach skin test

•

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

•

en:orotic aciduria

•

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

•

en:normal urinary 17-ketosteroids

•

en:normal plasma and tissue carnitine

•

en:normal parathyroid hormone (female)

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal or decreased serum potassium

•

en:normal isoelectric focusing of serum transferrin

•

en:normal erythrocyte gs activity

•

en:normal b12

•

en:increased blood alanine

•

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

•

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

•

en:decreased activity of galactocerebrosidase

•

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

•

en:decreased serum factor b (atypical hus)

•

en:decreased serum b12 levels

•

en:decreased plasma arginine

•

en:decreased or absent serum ceruloplasmin

•

en:decreased nk cells (in some patients)

•

en:decreased galactokinase activity

•

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

•

en:decreased ciliary motility

•

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

•

en:decreased antithrombin iii (rare)

•

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

•

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

•

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

•

en:deletion of chromosome 18p11.2

•

en:decreased activity of complement factor d

•

en:decreased acetyl-coa carboxylase activity

•

en:chylomicronemia, refractory fasting

•

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

•

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

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

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

•

en:aprt deficiency measured in erythrocyte lysate

•

en:antiribonuclear protein positive

•

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

•

en:absent ch50 activity in complete c4 deficiency

•

en:impaired o-glycosylation

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:defect in oxidative phosphorylation

•

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

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:ethylmalonic aciduria

•

en:impaired mitochondrial translation

•

en:hypocholesterolemia

•

en:hypoxia

•

en:hyperammonemia, episodic

•

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

•

en:hereditary fructose intolerance

•

en:hepatic lipase deficiency (disorder)

•

en:hemoglobin f increased

•

en:hematuria, gross and microscopic

•

en:globulin gamma serum plasma increased result

•

en:fumarase deficiency

•

en:fibroblasts show increased sensitivity to apoptosis

•

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

•

en:hair bulb tyrosinase present

•

en:elevated urinary hyaluronic acid levels

•

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

•

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

•

en:elevated urinary delta-aminolevulinic acid

•

en:duplication or deletion at 11p15.5

•

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

•

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

•

en:disorganized growth plate cartilage

•

en:elevated gamma-glutamyltransferase

•

en:elevated plasma methionine (methioninemia)

•

en:elevated sed rate

•

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

•

en:elevated plasma acth

•

en:elevated serum long-chain fatty acids

•

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

•

en:increased serum osteocalcin

•

en:increased serum parathyroid hormone (pth)

•

en:increased serum total cholesterol

•

en:increased serum vitamin b12

•

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

•

en:increased urinary cortisol/cortisone ratio

•

en:increased urinary potassium

•

en:increased urinary tiglylglycine

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:increased serum growth hormone levels

•

en:low or absent luteinizing hormone (lh)

•

en:hypogammaglobulinemia

•

en:increased serum direct bilirubin

•

en:increased serum acyl carnitines

•

en:increased plasma renin activity

•

en:increased plasma levels of bile acid intermediates

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased erythropoietin

•

en:increased csf interferon alpha

•

en:increased biopterin in urine and csf

•

en:impaired oxidation of pyruvate

•

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

•

en:iga antiendomysial antibodies (ema)

•

en:hypoglycosylation of plasma glycoproteins

•

en:hypocalcemia, transient

•

en:low serum levels of ketone bodies

•

en:pt normal

•

en:mean platelet volume (mpv) 12.6fl

•

en:serum cholesterol low or normal

•

en:4-hydroxyphenylacetic aciduria

•

en:hypernatriuria

•

en:adult hypophosphatasia (disorder)

•

en:very low igg

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:transcobalamin ii deficiency

•

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

•

en:slightly increased serum alkaline phosphatase may occur

•

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

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:serum homocysteine normal

•

en:serum gastrin increased

•

en:round, yellow-brown dha urine crystals

•

en:median mean platelet volume 13fl

•

en:reduced igg levels, particularly igg2 subclass

•

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

•

en:proper antibody response to protein vaccinations

•

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

•

en:paraproteinemia

•

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

•

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

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:normal-elevated plasma testosterone (male range)

•

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

•

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

•

en:mildly elevated acth

•

en:mild-moderate prolonged bleeding time

•

en:hypertriglyceridemia, transient

•

en:decreased serum 18-ohb

•

en:hyperbilirubinemia in those with liver failure

•

en:cutaneous anergy

•

en:decreased numbers of t regulatory cells

•

en:decreased mitochondrial nadp(h)

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:decreased intracellular fmr protein

•

en:decreased iga, igg, igm

•

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

•

en:decreased apoa-i and apoa-ii

•

en:decreased amount and activity of mitochondrial complexes i and iv

•

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

•

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

•

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

•

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

•

en:complex organic aciduria

•

en:decreased plasma apolipoprotein c-ii

•

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

•

en:argininosuccinic aciduria

•

en:adrenocorticotropic hormone, increased

•

en:absent anti-insulin receptor antibodies

•

en:abnormal transaminases (1 patient)

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

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

•

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

•

en:abnormal columnization of chondrocytes

•

en:abacterial leukocyturia

•

en:4-hydroxyphenylpyruvic aciduria

•

en:laboratory abnormalities

•

en:absence of outer dynein arms

•

en:decreased or normal serum c3

•

en:decreased platelet derived growth factor

•

en:hydroxyprolinuria

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:homocystinemia

•

en:holocarboxylase synthetase deficiency

•

en:high urinary orotic acid

•

en:high urinary copper

•

en:high ornithine

•

en:glycosuria

•

en:glycinuria

•

en:galactosyltransferase i deficiency in fibroblasts

•

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

•

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

•

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

•

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

•

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

•

en:decreased serum haptoglobin

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:elevated serum iron

•

en:elevated plasma insulin

•

en:elevated il1-beta

•

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

•

en:elevated androstenedione

•

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

•

en:direct hyperbilirubinemia

•

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

•

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

•

en:deficiency of fructokinase

•

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

•

en:decreased triiodothyronine level

•

en:abnormal liver enzymes during illness

•

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

•

en:aminoaciduria (in some patients)

•

en:increased serum unconjugated bilirubin

•

en:low serum levels of branched-chain amino acids

•

en:low plasma citrulline

•

en:low or undetectable insulin

•

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

•

en:low-to-normal platelet count

•

en:low-molecular-weight proteinuria

•

en:leukocytosis

•

en:lactic acidemia

•

en:isovaleric acidemia

•

en:iron overload (in some patients)

•

en:increased urinary propionyl glycine

•

en:increased total bilirubin may occur

•

en:increased serum s-adenosylhomocysteine

•

en:methionine adenosyltransferase deficiency

•

en:increased serum pyruvate in acute stage

•

en:increased serum lactate during metabolic crisis

•

en:increased serum ige

•

en:increased serum creatine kinase (patient a)

•

en:increased serum alkaline phosphatase (in some patients)

•

en:increased prevalence among the native american lumbee indians

•

en:increased plasma pipecolic acid

•

en:increased plasma branched-chain fatty acids

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased il-8

•

en:increased csf lactate

•

en:increased csf homovanillic acid (hva)

•

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

•

en:low serum magnesium

•

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

•

en:hypoproteinemia (in 1 patient)

•

en:phosphate normal

•

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

•

en:childhood hypophosphatasia (disorder)

•

en:very low igm

•

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

•

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

•

en:skewed x-inactivation in females

•

en:severely impaired ciliary motility

•

en:serum c-peptide and glucagon levels measurable

•

en:reduced ige levels

•

en:reduced erythrocyte adenosine deaminase activity

•

en:prolidase deficiency

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:partial deficiency of factor xi(c)

•

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

•

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

•

en:occasionally mild elevation of csf protein

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:no increased sensitivity to oxidative species

•

en:normocalcemia

•

en:normal to prolonged bleeding time

•

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

•

en:normal dermal hydroxylysine content

•

en:normal complex ii activity

•

en:normal arterial oxygen saturation

•

en:nadh-cytochrome b(5) reductase deficiency

•

en:multi-tailed spermatozoa

•

en:monoclonal gammopathy

•

en:increased cholesterol

•

en:structural abnormalities seen on chromosome analysis

•

en:hypoprebetalipoproteinemia

•

en:decreased beta-oxidation of pristanic acid

•

en:decreased or absent ciliary motility

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:decreased neopterin and biopterin in csf

•

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

•

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

•

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

•

en:decreased hdl cholesterol

•

en:decreased fibroblast iduronate sulfatase

•

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

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:decreased csf methyltetrahydrofolate (mthf)

•

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

•

en:decreased beta-galactosidase activity

•

en:decreased or absent steroid sulfatase activity

•

en:decreased activity of tyrosine hydroxylase

•

en:decreased activity of phosphoglycerate kinase 1

•

en:decreased activity of mitochondrial respiratory complexes

•

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

•

en:cystathioninemia

•

en:coarse metachromatic granules in white blood cells

•

en:cilia show inner and outer dynein arm defects

•

en:cd4+/cd8+ ratio is reversed

•

en:calcium normal

•

en:blood glucose normal

•

en:azoospermia/oligospermia (present at diagnosis)

•

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

•

en:hypokalemia during periodic paralysis (most patients)

•

en:decreased or absent gch1 activity

•

en:bile contains cholesterol crystals

•

en:decreased plasma free carnitine

•

en:folic acid deficiency

•

en:decreased plasma lpl levels (in some patients)

•

en:hypercholesterolemia (disorder)

•

en:hypercholesterolemia (reported in 2 patients)

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:high serum inosine levels

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:high ebv viral load

•

en:hereditary angioedema

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:granular osmiophilic deposits (grod) in cells

•

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

•

en:hyperchloridura

•

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

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:decreased plasma zinc levels

•

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

•

en:elevated leukotriene e(4)

•

en:deficiency of laminin in basement membranes

•

en:elevated plasma stigmasterol

•

en:elevated urinary 3-methylglutarate

•

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

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:decreased respiratory chain complex iii activity in multiple tissues

•

en:elevated serum protein

•

en:elevated serum transaminase levels

•

en:low ldl cholesterol

•

en:low apolipoprotein

•

en:keratan sulfaturia in some patients

•

en:low serum calcium

•

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

•

en:irregularly shaped sperm heads

•

en:increased urinary oligosaccharides

•

en:increased uric acid level

•

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

•

en:increased thymine and dihydrothymine in bodily fluids

•

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

•

en:isovalericaciduria

•

en:increased long-chain acylcarnitine

•

en:increased serum prostaglandin e2

•

en:increased serum lactate (in some patients)

•

en:increased serum glutamine

•

en:increased pyruvate in serum and csf

•

en:increased plasma and urinary pipecolic acid

•

en:increased iga level

•

en:increased csf histidine

•

en:increased creatinine

•

en:increased chromosomal breakage

•

en:immediate (type i) skin test reactivity

•

en:i-cell disease

•

en:hypoketotic hypoglycemia

•

en:hyperuricuria

•

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

•

en:no evidence of perinatal infection

•

en:markedly reduced igg levels

•

en:orotic acid crystalluria

•

en:serum creatine kinase may be normal or increased

•

en:hypermagnesemia

•

en:serum calcium elevated

•

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

•

en:reduced iga

•

en:pyruvate-induced insulin secretion

•

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

•

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

•

en:polymorphonuclear leukocytosis, episodic

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:patient cells show increased chromosome breakage

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

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

•

en:no ketonuria

•

en:normal urinary cyclic amp response to pth administration

•

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

•

en:normal serum folate levels

•

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

•

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

•

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

•

en:normal csf neurotransmitters

•

en:normal concentration of parathyroid hormone

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:nephrotic syndrome

•

en:myoglobinuria after exertion

•

en:hyperuricemia

•

en:decreased neopterin and biopterin in urine

•

en:hyperhomocystinemia

•

en:chromosomal instability

•

en:decreased fumarate hydratase activity

•

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

•

en:decreased fibroblast beta-hexosaminidase

•

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

•

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

•

en:decreased activity of triosephosphate isomerase

•

en:decreased activity of nadph oxidase

•

en:decreased activity of mitochondrial complex i

•

en:continuous urinary iodine loss

•

en:chronic hypoxemia

•

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

•

en:cerebrospinal fluid lymphocytosis

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

en:cd4+/cd8+ ratio often reversed

•

en:androgens increased

•

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

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

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

•

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

•

en:absent axonal flare response to intradermal histamine injection

•

en:abnormal nasal potential difference

•

en:abnormal cartilage collagen on em

•

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

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:shortened telomeres (1 patient)

•

en:decreased gtp cyclohydrolase i activity (about 20% of normal)

•

en:decreased natural killer cells

•

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

•

en:elevated serum levels of luteinizing hormone (lh)

•

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

•

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

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:glycogen accumulation in both liver and muscle

•

en:fluorescence of red blood cells by uv microscopy

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:exercise-induced myoglobinuria in adults

•

en:elevated serum transferrin saturation

•

en:elevated serum bile acids

•

en:decreased phk activity in liver

•

en:elevated sepiapterin in csf

•

en:elevated plasma propionylcarnitine

•

en:elevated ferritin l subunit

•

en:elevated erythrocyte adenosine deaminase activity

•

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

•

en:echocardiogram abnormal

•

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

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:deficiency of serum properdin p factor

•

en:decreased serum thiamine pyrophosphate

•

en:decreased serum acth

•

en:decreased plasma esterified cholesterol

•

en:serum prolactin increased

•

en:decreased aminoacylase-1 activity

•

en:some cilia show abnormal beating patterns or immotility

•

en:inner and outer dynein arm defects, variable

•

en:mildly prolonged bleeding time 10-12 minutes

•

en:methylmalonic acidemia

•

en:lysosomal-like storage vacuoles in various tissues

•

en:low urinary cyclic amp response to pth administration

•

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

•

en:low total serum protein

•

en:low or normal serum igm

•

en:low or absent igm levels

•

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

•

en:low acth level

•

en:iron binding capacity total increased

•

en:increased vitamin e (alpha-tocopherol) levels

•

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

•

en:increased urinary s-sulfocysteine

•

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

•

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

•

en:increased urinary adenosine

•

en:increased urinary 2-oxoglutaric acid

•

en:increased transferrin saturation (>60%)

•

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

•

en:increased sodium-potassium pump activity

•

en:increased serum methionine (reported in 2 cases)

•

en:increased serum manganese

•

en:increased serum and urinary 2-oxoglutarate

•

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

•

en:mild elevation of transaminases

•

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

•

en:increased histidine in blood, urine, and csf

•

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

•

en:vitamin d deficiency

•

en:urocanase deficiency

•

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

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

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

•

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

•

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

•

en:triglyceride decreased

•

en:transaminitis

•

en:serum folate normal

•

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

•

en:spongy degeneration of brain on histology

•

en:pseudohypertriglyceridemia in adult form

•

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

•

en:platelet count normal

•

en:plasma catecholamines decreased

•

en:phosphaturia (in some)

•

en:osteocalcin increased

•

en:no ketosis

•

en:no hyperphenylalaninemia

•

en:normal to elevated total plasma carnitine

•

en:normal serum 25-hydroxyvitamin d3

•

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

•

en:normal leukocyte and platelet counts

•

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

•

en:normal aldosterone

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

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

•

en:decreased cerebrospinal fluid folic acid

•

en:deficiency or absence of p22-phox protein

•

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

•

en:defects in mitochondrial oxidative phosphorylation

•

en:defective dna repair after ultraviolet radiation damage

•

en:decreased von willebrand factor

•

en:decreased tissue total and free carnitine

•

en:decreased red cell pyruvate kinase activity

•

en:decreased palmitate oxidation

•

en:decreased or absent histidase activity

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased long-chain fatty acid oxidation

•

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

•

en:direct coombs test negative

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:contiguous gene deletion syndrome

•

en:bilirubin conjugated increased

•

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

•

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

•

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

•

en:abnormal liver enzymes, episodic

•

en:urine uric acid decreased

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

en:tyrosinemia

•

en:thrombocytosis (in some patients)

•

en:increased csf protein

•

en:deficient fibroblast aicar-tf activity

•

en:abnormal liver function test

•

en:dolichyl-p-glc:man(9)glcnac(2)-pp-dolichyl glucosyltransferase deficiency

•

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

•

en:increased circulating renin level

•

en:dyslipidemia

•

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

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:immunoglobulin antibodies present

•

en:hyperlipoproteinemia type i

•

en:high m-component

•

en:heteroplasmic partial duplication of mtdna

•

en:generalized aminoaciduria

•

en:gamma-glutamylcysteine deficiency

•

en:galactosylation defects

•

en:fucosidosis

•

en:hypocalcemia

•

en:fibronectin decreased

•

en:elevated long chain fatty acids

•

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

•

en:elevated androstenedione and testosterone

•

en:elevated csf glycine

•

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

•

en:elevated hepatic transaminases

•

en:elevated plasma estrogen

•

en:elevated prothrombin time

•

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

•

en:elevated serum phosphate in heterozygotes

•

en:elevated serum uric acid concentrations

•

en:elevated biopterin in csf

•

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

•

en:hb h erythrocyte inclusions

•

en:immunoreactive pc protein

•

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

•

en:hyperornithinemia

•

en:hypoglycemia, intermittent

•

en:hypomagnesemia

•

en:hyponatremia

•

en:hyposialylation of o-linked serum glycans

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:impaired creatine uptake in fibroblasts

•

en:increased csf interferon

•

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

•

en:increased free cyanocobalamin in fibroblasts

•

en:increased plasma vldl, ldl

•

en:increased rai (radioactive iodine) uptake

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased serum alanine

•

en:glycoamino aciduria

•

en:increased serum bilirubin (in some patients)

•

en:glycogen storage disease type v

•

en:disseminated intravascular coagulation

•

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

•

en:electrocardiogram abnormal

•

en:increased serum gm-csf

•

en:decreased secretion of igf1 in response to gh administration

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:deficiency of fat-soluble vitamins

•

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

•

en:deficiency or absence of p91-phox protein

•

en:dehydration

•

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

•

en:elevated 3-methylcitric acid

•

en:excessive iodide trapping

•

en:elevated apoa-i (1.8x normal) in homozygotes

•

en:elevated ast and ldh, especially infantile-onset

•

en:elevated erythrocyte aicar (zmp)

•

en:elevated fasting triglycerides

•

en:elevated fibroblast free sialic acid

•

en:elevated plasma levels of lp(a)

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:elevated urinary epinephrine

•

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

•

en:increased serum creatine kinase in acute stage

•

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

•

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

•

en:slightly elevated 24-hour mean plasma cortisol

•

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

•

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

•

en:premature chromosome condensation

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:reduced total and free carnitine in plasma and tissue

•

en:sce normal in heterozygotes

•

en:serum ferritin normal

•

en:serum testosterone decreased

•

en:tay-sachs disease

•

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

•

en:thyroid dyshormonogenesis 4

•

en:transferase deficiency galactosemia

•

en:transient neonatal hypoglycemia (2p21del)

•

en:type i, classic, decreased antithrombin iii levels

•

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

•

en:urinary excretion of sialylated oligosaccharides

•

en:variable defects of inner dynein arms

•

en:vitamin b12 deficiency (in some patients)

•

en:acrodermatitis enteropathica

•

en:oligospermia or azoospermia

•

en:normal serum complement levels

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:low copper and ceruloplasmin

•

en:increased urinary creatine

•

en:increased urinary l-glycerate

•

en:increased urinary malic acid

•

en:interstitial or terminal deletion of 18q

•

en:karyomegaly may be found in other visceral organs

•

en:ketonuria (1 patient)

•

en:lactic acidosis

•

en:large spermatozoa

•

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

•

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

•

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

•

en:methylmalonic aciduria, mild

•

en:mildly elevated blood ammonia

•

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

•

en:mild eosinophilia may occur

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy (50%) affecting all chromosomes

•

en:neutropenia (in 1 patient)

•

en:normal cd8+/cd4+ ratio

•

en:normal iga levels

•

en:normal or mildly increased serum creatine kinase

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

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Génériques

[F] [H]

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en:low

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6881106 • caches: c1=44 c2=1220 c3=194

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