Diko : en:increased serum beta-hexosaminidase

en:increased serum beta-hexosaminidase

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C2673361

Associations d'idées

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1000

en:thymic hormone decreased

•

en:variably increased serum creatine kinase

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:abnormal isoelectric focusing of serum transferrin

•

en:antithrombin iii decreased

•

en:decreased triiodothyronine level

•

en:deficiency of serum properdin p factor

•

en:hepatic ornithine transcarbamylase deficiency

•

en:increased urinary 3-methylglutaconic acid

•

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

•

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

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:elevated urinary delta-aminolevulinic acid

•

en:decreased plasma arginine

•

en:increased serum fgf23

•

en:increased histidine in blood, urine, and csf

•

en:ketonemia

•

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

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:decreased plasma zinc levels

•

en:normal collagen type i studies

•

en:anti-ssb positive

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

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

•

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

•

en:increased csf transferrin despite normal serum transferrin levels

•

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

•

en:nephrotic syndrome

•

en:abacterial leukocyturia

•

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

•

en:decreased serum alpha-2 macroglobulin levels

•

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

•

en:homocitrullinuria

•

en:increased prevalence among the native american lumbee indians

•

en:increased serum creatine kinase during episodes

•

en:microscopic hematuria

•

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

•

en:prolonged partial thromboplastin time

•

en:calcium normal

•

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

•

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

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

en:generalized amyloid deposition

•

en:low to very low hdl cholesterol

•

en:indirect hyperbilirubinemia

•

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

•

en:hyperuricuria

•

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

•

en:bilirubin conjugated increased

•

en:decreased c3 activity

•

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

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:defective dna repair after ultraviolet radiation damage

•

en:platelet count normal

•

en:normal serum liver enzymes

•

en:mildly elevated transaminases

•

en:increased serum glutamine

•

en:serum triglycerides increased

•

en:hypoglycemia, intermittent

•

en:hepatic lipase deficiency (disorder)

•

en:elevated long chain fatty acids

•

en:direct coombs test negative

•

en:deficiency of fat-soluble vitamins

•

en:hypogammaglobulinemia, profound

•

en:elevated cerebrospinal fluid (csf) protein

•

en:large spermatozoa

•

en:increased fibroblast free sialic acid

•

en:glyoxalase deficiency

•

en:elevated urinary mevalonic acid

•

en:cutaneous anergy

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

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

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:moderately decreased to normal phk activity in skeletal muscle

•

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

•

en:hyponatremic dehydration, rarely

•

en:normal baseline cortisol

•

en:increased biliverdin in bodily fluids

•

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

•

en:normal to elevated total plasma carnitine

•

en:markedly reduced iga levels

•

en:increased urine porphyrins at times

•

en:metabolic acidosis

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:gamma-glutamylcysteine deficiency

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

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

•

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

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:lysyl hydroxylase deficiency

•

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

•

en:decreased urinary calcium and phosphate excretion

•

en:fluorescence of red blood cells by uv microscopy

•

en:hepatic argininosuccinase deficiency

•

en:high urinary orotic acid

•

en:increased 18-hydroxycortisol

•

en:increased serum alanine (1 patient)

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

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

•

en:methylglutaconic aciduria, mild

•

en:increased urinary tiglylglycine

•

en:reactive hypoglycemia

•

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

•

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

•

en:normal blood lactate

•

en:galactosuria

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

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

•

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

•

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

•

en:decreased activity of nadph oxidase

•

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

•

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

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:intermittent ethylmalonic aciduria

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:phosphaturia

•

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

•

en:gm2-ganglioside accumulation

•

en:hyperglycolic aciduria

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:increased erythrocyte sedimentation rate, episodic

•

en:increased urinary dihydropyrimidines

•

en:loss of heterozygosity in giant cell astrocytomas, angiomyolipomas, rhabdomyomas

•

en:low or absent growth hormone (gh)

•

en:normal parathyroid hormone (female)

•

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

•

en:defect in mitochondrial and peroxisomal fission

•

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

•

en:march myoglobinuria

•

en:intracellular granular material on ultrastructural analysis

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased total bilirubin may occur

•

en:increased phytanic acid in body tissues and fluids

•

en:decreased cortisol-binding globulin

•

en:hyperglycemia

•

en:enzyme replacement therapy has not been effective

•

en:elevated lathosterol

•

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

•

en:alkaline phosphatase normal

•

en:platelet glycoprotein iiia deficiency

•

en:normal urinary pterins

•

en:hypomethioninemia

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:transient neonatal hypocalcemia (2p21del)

•

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

•

en:mildly elevated hepatic enzymes

•

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

•

en:increased serum methionine

•

en:increased peripheral blood monocytes

•

en:hypokalemia

•

en:low urinary orotic acid

•

en:hyperprolinemia type 1

•

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

•

en:decreased von willebrand factor

•

en:decreased leptin

•

en:decreased ciliary motility

•

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

•

en:duplication or deletion at 11p15.5

•

en:hyperbilirubinemia in those with liver failure

•

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

•

en:no evidence of perinatal infection

•

en:increased serum lactate during metabolic crisis

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:absent 7-dehydrocholesterol

•

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

•

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

•

en:decreased levels of cellular and mitochondrial fes-containing proteins

•

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

•

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

•

en:secondary decreases in complex i and iv activity

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:t cells may be increased or decreased

•

en:low fasting glucose (in some patients)

•

en:urine uric acid decreased

•

en:tyrosinemia (transient, resolves in infancy)

•

en:serum osmolality decreased

•

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

•

en:normal lysyl oxidase activity

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:increased intracellular fmrp mrna

•

en:dehydration

•

en:decreased telomere length in lymphocytes

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

en:hypercalcemia

•

en:vitamin k deficiency

•

en:iron binding capacity total increased

•

en:increased urinary urate

•

en:increased urine vanillactic acid (vla)

•

en:hyperoxalaemia

•

en:incresased urinary pyruvate

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:iron overload (in some patients)

•

en:ketoacidosis

•

en:low apolipoprotein

•

en:low density lipoprotein increased

•

en:increased urinary neopterin

•

en:low free carnitine

•

en:increased urinary oxylate

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased urinary isobutyryl glycine

•

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

•

en:increased urinary 2-oxoglutaric acid

•

en:increased tissue long-chain fatty acids

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum citrulline (group b)

•

en:increased serum beta-carotene

•

en:increased disialo- and asialotransferrin

•

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

•

en:iga antiendomysial antibodies (ema)

•

en:hypoproteinemia due to hypercatabolism

•

en:hypertriglyceridemia, transient

•

en:low or undetectable c-peptide

•

en:low or absent luteinizing hormone (lh)

•

en:prolonged prothrombin time (pt)

•

en:low plasma free and total carnitine

•

en:no mucopolysacchariduria

•

en:serum pristanic acid increased

•

en:serum creatine kinase may be normal or increased

•

en:serum creatine kinase may be normal

•

en:serum carnitine deficiency

•

en:serum alpha-1-antitrypsin (pi) deficiency

•

en:renin decreased

•

en:raised c-reactive protein

•

en:protein total decreased

•

en:hemophilia b

•

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

•

en:pancreatic trypsinogen deficiency

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:occasional hypomagnesemia

•

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

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:no c8 antigen detected

•

en:normal renin level

•

en:normal pyridinoline excretion in urine

•

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

•

en:normal csf 5-hiaa

•

en:normal axonal flare response after intradermal histamine injection

•

en:neutropenia

•

en:n-glycosylation defect

•

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

•

en:mitochondrial malic enzyme reduced

•

en:mild elevation of cholesterol

•

en:microdeletion 22q11.2

•

en:medium chain dicarboxylic aciduria

•

en:hypermethioninemia, progressive

•

en:direct hyperbilirubinemia

•

en:hair bulbs will pigment when incubated with tyrosine

•

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

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

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

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased levels of plasma factor viii

•

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

•

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

•

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

•

en:decreased csf serine

•

en:decreased circulating aldosterone level

•

en:cytoplasmic lamellar concentric inclusions

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:complex organic aciduria

•

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

•

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

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:affected mother has reduced zinc levels in breast milk (may be up to 40% less than normal breast milk)

•

en:accumulation of cholesterol esters in various tissues

•

en:abnormal phospholipid profile

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abnormal lipid profile

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

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

•

en:abnormal eeg in 25% hospitalized patients

•

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

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:severely decreased antigen levels of vwf and factor viii

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:decreased or absent serum citrulline

•

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

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:excessive urinary 5-oxo-l-proline

•

en:elevated urinary ornithine, lysine, arginine

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated plasma ammonia

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated inflammatory markers

•

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

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:decreased plasmalogens

•

en:elevated bilirubin (bilirubinemia)

•

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

•

en:elevated 3-hydroxypropionic acid

•

en:dyskinetic ciliary motility

•

en:dicarboxylic aciduria

•

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 or absence of p91-phox (300481) protein

•

en:deficiency of fructokinase

•

en:decreased whole blood serotonin

•

en:decreased testosterone level

•

en:decreased serum iga

•

en:decreased plasma apolipoprotein c-ii

•

en:serum testosterone level normal

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

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

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:mildly decreased serum creatinine

•

en:methylenetetrahydrofolate reductase deficiency

•

en:methemoglobinemia

•

en:metachromatic deposits (sulfatide-containing) in central and peripheral nervous systems and visceral organs

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

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

•

en:low urinary cyclic amp response to pth administration

•

en:low plasma hdl

•

en:low or undetectable insulin

•

en:low or normal serum igm

•

en:low-to-normal csf lactate

•

en:increased urinary oligosaccharides

•

en:increased serum osteocalcin

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

en:increased serum creatine kinase (less common)

•

en:increased serum cholesterol (in 3 of 10 patients)

•

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

•

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

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

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

•

en:increased disialotransferrin and asialotransferrin levels

•

en:increased csf protein

•

en:increased csf and plasma gaba

•

en:increased cholesterol

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:igg deficiency

•

en:hypoalbuminemia

•

en:mitochondria dna deletion

•

en:normal 46,xy karyotype

•

en:hyperoxaluria

•

en:pyrimidinuria

•

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

•

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

•

en:uremia

•

en:t-cell deficit

•

en:t-lymphocytopenia

•

en:systemic amyloidosis may occur

•

en:subtelomeric deletion of chromosome 16p

•

en:serum iron raised

•

en:serum iron low (finding)

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:reduced total and free carnitine in plasma and tissue

•

en:reduced ige levels

•

en:reduced erythrocyte gs activity

•

en:protein urine absent

•

en:normal erythrocyte gs activity

•

en:prolidase deficiency

•

en:presence of vacuoles on muscle biopsy

•

en:phytanic acid increased

•

en:phosphate normal

•

en:partial deficiency of factor xi (less common)

•

en:partial deficiency of factor xiii(c)

•

en:oligospermia or azoospermia

•

en:no hyperphenylalaninemia

•

en:normal urinary orotic acid

•

en:normal serum phosphorus

•

en:normal plasma renin

•

en:normal plasma and tissue carnitine

•

en:normal or mildly increased serum creatine kinase

•

en:hyperthreoninemia

•

en:tenascin x deficiency (serum and fibroblasts)

•

en:hypernatremia

•

en:absent platelet agglutination in presence of ristocetin

•

en:decreased fibrinogen (in some patients)

•

en:decreased fbp1 enzyme activity

•

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

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:decreased cpt1 activity

•

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

•

en:cilia show inner and outer dynein arm defects

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin kappa light chain (147200, 2p12) locus

•

en:cd4+/cd8+ ratio is reversed

•

en:antineutrophil cytoplasmic antibody

•

en:aminoaciduria, mild (in some patients)

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

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

•

en:decreased grhpr activity

•

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

•

en:abnormal igfr1 function

•

en:abnormal dystrophin on muscle biopsy

•

en:abnormal cholesterol homeostasis

•

en:abnormal acylcarnitine profiles

•

en:4-hydroxyphenylacetic aciduria

•

en:3-methylglutaric aciduria (3-mga)

•

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

•

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

•

en:vacuolated lymphocytes

•

en:urine cortisol, increased

•

en:hyperkalemia

•

en:transient hyperlipidemia

•

en:decreased fibroblast iduronate sulfatase

•

en:urine odor, maple syrup

•

en:decreased levels of certain coagulation factors

•

en:elevated serum iron and iron binding capacity

•

en:decreased levels of serum vitamin b12

•

en:hepatic gamma-cystathionase deficiency

•

en:hepatic argininosuccinate synthetase deficiency

•

en:heparin cofactor ii deficiency (disorder)

•

en:hair bulb tyrosinase present

•

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

•

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

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:female carriers show markedly skewed x inactivation

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:elevated urinary pge(2) levels

•

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

•

en:hyperinsulinemia

•

en:elevated leukotriene e(4)

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:decreased or absent ciliary motility

•

en:elevated fibroblast free sialic acid

•

en:decreased or absent pts activity

•

en:decreased phytanic acid oxidase activity

•

en:decreased serum 25-hydroxyvitamin d

•

en:hyperammonemia, episodic

•

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

•

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

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:defect in oxidative phosphorylation

•

en:deficiency of laminin in basement membranes

•

en:marked hypobetalipoproteinemia

•

en:markedly increased serum creatine kinase

•

en:low plasma arginine

•

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

•

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

•

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

•

en:keratan sulfate excretion in urine that decreases with age

•

en:isochromosome often missing in lymphocyte

•

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

•

en:metachromasia of white blood cells and fibroblasts

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:increased urinary organic acids (in some patients)

•

en:interstitial or terminal deletion of 18q

•

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

•

en:increased urinary methylcitrate

•

en:increased urinary hga

•

en:increased urinary glycerol

•

en:increased urinary adenosine

•

en:increased serum ferritin (in some patients)

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum creatine kinase in acute stage

•

en:increased serum and csf lactate

•

en:increased serum alpha-mannosidase

•

en:methemoglobin concentration 12 to 19%

•

en:increased pristanic acid

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:plasma protein c deficiency

•

en:methioninuria

•

en:primary immunoglobulin-related amyloidosis (al)

•

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

•

en:increased long-chain acylcarnitine

•

en:slightly increased serum alkaline phosphatase may occur

•

en:shortened telomeres (in 1 of 2 patients)

•

en:serum prolactin increased

•

en:serum mitochondrial autoantibodies

•

en:serum homocysteine normal

•

en:serum ferritin hyperglycosylation

•

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

•

en:reduced iga

•

en:reduced erythrocyte glucose/hexose transport

•

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

•

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

•

en:methylmalonyl-coenzyme a mutase deficiency

•

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

•

en:platelet antibody positive

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

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

•

en:normal free urinary cortisol

•

en:normal exocrine pancreatic function

•

en:normal concentration of parathyroid hormone

•

en:normal cerebrospinal fluid

•

en:normal calcium (female)

•

en:mitochondrial complex i deficiency in muscle

•

en:mildly elevated urinary mevalonic acid

•

en:mildly decreased phosphaturic response to pth administration has been reported in some cases

•

en:increased plasma levels of bile acid intermediates

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:increased il18

•

en:decreased cholesterol (less common)

•

en:decreased serum vitamin a

•

en:decreased serum haptoglobin

•

en:decreased serum factor h (atypical hus)

•

en:decreased serum carnitine in acute stage

•

en:decreased renal calcium excretion

•

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

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:decreased methionine synthase activity

•

en:decreased levels of the e2 subunit protein

•

en:decreased dermal hydroxylysine content

•

en:decreased csf hypocretin

•

en:decreased circulating renin level

•

en:decreased c3 antigen

•

en:decreased thrombospondin

•

en:decreased axonal flare response after intradermal histamine injection

•

en:decreased activity of triosephosphate isomerase

•

en:decreased activity of mitochondrial respiratory chain complex i

•

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

•

en:chondroitin 6-sulfate excretion in urine

•

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

•

en:axonemes show normal structure

•

en:antiphospholipid antibody

•

en:aminoaciduria (1 patient)

•

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

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:transferrin saturation increased

•

en:decreased sulfite oxidase activity

•

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

•

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

•

en:gaucher disease, type 1

•

en:increased ck-mb

•

en:inappropriately increased urine osmolality

•

en:immunoglobulin a decreased

•

en:hypoglycemia, fasting

•

en:hypocalcemia, transient

•

en:hyperphosphatemia, transient

•

en:hypermagnesemia

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:hyperglycinemia

•

en:hypercalciuria (in some patients)

•

en:homocysteinemia

•

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

•

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

•

en:defect in double-stranded dna repair

•

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

•

en:farber lipogranulomatosis

•

en:euvolemia

•

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

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:elevated serum transaminases during infections

•

en:elevated plasma insulin

•

en:elevated hcg (choriocarcinoma)

•

en:elevated free carnitine

•

en:elevated androstenedione

•

en:elevated 8-dehydrocholesterol

•

en:elevated 17-hydroxyprogesterone

•

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

•

en:thrombocytosis (in some patients)

•

en:high m-component

•

en:xanthine nephrolithiasis

•

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

•

en:normal cd8+/cd4+ ratio

•

en:nonketotic hypoglycemia

•

en:low total serum protein

•

en:low serum cortisol

•

en:low or absent igm levels

•

en:kypokalemia

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

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

•

en:increased urinary thiosulfate

•

en:increased urinary prostaglandin e2

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased urinary excretion of coproporphyrin i

•

en:increased serum parathyroid hormone (pth)

•

en:normal or increased serum creatine kinase

•

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

•

en:increased serum glycine, leucine, isoleucine, valine

•

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

•

en:increased plasma lactate

•

en:increased neopterin in urine and csf

•

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

•

en:increased csf homovanillic acid (hva)

•

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

•

en:impaired platelet aggregation

•

en:igg, decreased

•

en:hyposialylation of o-linked serum glycans

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:normal g(s)-alpha levels (139320)

•

en:normal or increased serum phytanic acid

•

en:hyperlysinemia

•

en:serum phosphate normal

•

en:3-methylglutaconic aciduria (3-mgc)

•

en:variable defects of inner dynein arms

•

en:urinary excretion of mucopolysaccharides

•

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

•

en:tsh decreased

•

en:triglyceride decreased

•

en:transaminitis

•

en:thyroid peroxidase defect

•

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

•

en:smooth muscle antibodies positive

•

en:severely impaired ciliary motility

•

en:serum prolactin decreased

•

en:serum growth hormone increased

•

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

•

en:serum creatinine raised

•

en:reticulocyte count increased

•

en:positive kveim-siltzbach skin test

•

en:plasma triglycerides increased

•

en:plasma aldosterone normal

•

en:phosphorylase kinase normal in muscle

•

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

•

en:panhypogammaglobulinemia

•

en:no ketosis

•

en:normal sedimentation rate

•

en:normal prolyl 4-hydroxylase activity

•

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

•

en:hypofibrinogenemia

•

en:normal leukocyte and platelet counts

•

en:hyperglycemias, postprandial

•

en:bone marrow hypoplasia (in some patients)

•

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

•

en:decreased csf homovanillic acid (hva)

•

en:decreased csf arginine

•

en:decreased complement factor d

•

en:decreased clot retraction

•

en:decreased aminoacylase-1 activity

•

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

•

en:creatine decreased

•

en:coombs positive hemolytic anemia

•

en:chromosomal mosaicism in cultured cells

•

en:carnitine deficiency

•

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

•

en:antithrombin iii deficiency

•

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

•

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

•

en:aminoaciduria (rare)

•

en:alkaline phosphatase serum increased

•

en:agammaglobulinemia

•

en:absent alkyl-dhap synthase activity

•

en:absence of chylomicrons in lymph and plasma

•

en:abnormal urinary compounds

•

en:abnormal serum liver enzyme levels

•

en:abnormal response of 25-hydroxyvitamin d-1-alpha-hydroxylase activity (609506) to hypophosphatemia

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:hydrocortisone decreased

•

en:aberrant gamma-interferon-mediated inflammation

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:b lymphocytopenia

•

en:elevated pyruvate (in most patients)

•

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

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:decreased long-chain fatty acid oxidation

•

en:hereditary angioedema

•

en:hematuria, gross and microscopic

•

en:glutaric acidemia type 1

•

en:glucose-6-phosphate deficiency

•

en:galactosylation defects

•

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

•

en:fasting hypoglycemia (early in disease course)

•

en:elevated plasma phytanic acid

•

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

•

en:elevated plasma alloisoleucine

•

en:elevated plasma acth

•

en:elevated acth

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

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

•

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

•

en:decreased plasma serine

•

en:decreased serum ceruloplasmin

•

en:decreased serum haptoglobin (in some patients)

•

en:decreased serum rt3

•

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

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:defective mitochondrial respiratory enzyme activity

•

en:dermatan sulfate excretion in urine

•

en:homocysteinemia (in some patients)

•

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

•

en:ketonuria

•

en:inner and outer dynein arm defects, variable

•

en:ketosis

•

en:little to absent aspartylglucosaminuria activity

•

en:hypogammaglobulinemia

•

en:mildly elevated acth

•

en:mild to moderate hyperammonemia

•

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

•

en:normal activity of von willebrand factor-cleaving protease

•

en:increased urinary succinic acid

•

en:normal lysl hydroxylase activity

•

en:increased urine oligosaccharides

•

en:igg, elevated

•

en:increased urinary hydroxyisovaleric acid

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased urinary 2-butanone

•

en:increased serum triglycerides (in some patients)

•

en:increased serum arylsulfatase a.

•

en:increased plasma creatine

•

en:increased plasma and urinary pipecolic acid

•

en:increased growth hormone (in 1 of 2 patients)

•

en:increased csf taurine

•

en:increased csf histidine

•

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

•

en:impairment of urinary concentration

•

en:immotile or weakly motile cilia

•

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

•

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

•

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

•

en:normal serum parathyroid hormone (pth)

•

en:thyroid dyshormonogenesis 5

•

en:high serum guanosine levels

•

en:at least 2 complementation groups

•

en:absent axonal flare response after intradermal histamine injection

•

en:abnormal serum glycoproteins

•

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

•

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

•

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

•

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

•

en:variable respiratory chain enzyme deficiency

•

en:variable hyperlipidemia

•

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

•

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

•

en:uric acid normal

•

en:telomere shortening

•

en:paraproteinemia

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:spongy degeneration of brain on histology

•

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

•

en:serum folate low

•

en:serum cholesterol raised

•

en:reticulocytosis

•

en:prothrombin time increased

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:prolinuria

•

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

•

en:pink urine

•

en:phosphorylase kinase deficiency in liver and muscle

•

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

•

en:hypocalciuria or normocalciuria

•

en:4-hydroxyphenylactic aciduria

•

en:high plasma citrulline (100-300 micromolar)

•

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

•

en:decreased fumarate hydratase activity

•

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

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:decreased csf ferritin despite normal serum ferritin levels

•

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

•

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

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

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

•

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

•

en:decreased activity of dihydrofolate reductase

•

en:decreased-absent intestinal mucosa lactase activity

•

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

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:decreased numbers of t regulatory cells

•

en:anti-factor viii positive

•

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

•

en:aminoaciduria (less common)

•

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

•

en:abnormal urinary organic acids

•

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

•

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

•

en:abnormal liver enzymes (1 patient)

•

en:4-hydroxyphenylpyruvic aciduria

•

en:bile contains cholesterol crystals

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:3-methylglutaconic aciduria

•

en:2-aminoadipic aciduria

•

en:decreased levels of plasma vwf antigen

•

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

•

en:high ornithine

•

en:elevated serum iron

•

en:hematuria, macroscopic and microscopic

•

en:hematuria

•

en:gonadotrophin increased

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:folate-dependent fragile site at xq28

•

en:foam cells in bone marrow and renal glomeruli

•

en:ferritin decreased

•

en:factor viii deficiency

•

en:elevated urinary phosphoethanolamine

•

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

•

en:elevated total cholesterol (seen in heterozygotes as well)

•

en:elevated sweat chloride

•

en:elevated serum transferrin saturation

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:decreased serum ferritin

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:elevated erythrocyte adenosine deaminase activity

•

en:elevated erythrocyte adenosine deaminase

•

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

•

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

•

en:defect in retrograde intraflagellar transport in cilia

•

en:defect in n- and o-glycosylation

•

en:defect in chylomicron secretion

•

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

•

en:decreased tetrasialo-transferrin

•

en:decreased telomerase activity

•

en:decreased serum thiamine pyrophosphate

•

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

•

en:ballooned neurons

•

en:disseminated intravascular coagulation

•

en:biotinidase deficiency

•

en:increased urinary homovanillic acid (hva)

•

en:lower total cholesterol

•

en:low-normal igm

•

en:long-chain dicarboxylic aciduria

•

en:leukotriene c4 synthetase deficiency

•

en:keratan sulfaturia in some patients

•

en:iron low

•

en:iron deficiency

•

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

•

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

•

en:infantile hypophosphatasia

•

en:increased urinary uracil

•

en:increased urinary sialylglycopeptides

•

en:increased urinary ketones

•

en:increased urinary citric acid cycle intermediates

•

en:low maximal oxygen uptake on exercise testing

•

en:increased urinary carnitine

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:increased urinary 3-oh-butyric acid

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased urinary 2-methylacetoacetic acid

•

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

•

en:increased uric acid level

•

en:increased tissue long-chain acylcarnitines

•

en:increased tissue levels of free fatty acids

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased serum s-adenosylmethionine

•

en:increased serum lactate hydrogenase

•

en:low leukocyte alkaline phosphatase activity

•

en:low serum ceruloplasmin

•

en:increased serum ammonia (group b)

•

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

•

en:very long chain fatty acid accumulation

•

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

•

en:urinary prostaglandin e

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

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

•

en:tay-sachs disease

•

en:sweat test normal

•

en:structural abnormalities seen on chromosome analysis

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:saccharopine dehydrogenase deficiency

•

en:raised tsh level

•

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

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:pipecolic acidemia

•

en:low to normal plasma methionine

•

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

•

en:parathyroid hormone level increased

•

en:no chromosome breakage

•

en:no cartilage staining with toluidine blue

•

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

•

en:normal or mildly reduced serum cobalamin

•

en:normal complex ii activity

•

en:myoglobinuria (reported in 1 patient)

•

en:mildly prolonged bleeding time 10-12 minutes

•

en:microtubule disorganization in some cilia

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:broad tissue deposition of amylopectin-like material

•

en:lysosomal-like storage vacuoles in various tissues

•

en:increased serum and csf glycine

•

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

•

en:increased lactate in spinal fluid

•

en:decreased secretion of igf1 in response to gh administration

•

en:elevated androstenedione and testosterone

•

en:elevated alkaline phosphatase of bone origin

•

en:elevated 8(9)-cholestenol

•

en:elevated 1,25(oh)2 d3

•

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

•

en:electrocardiogram abnormal

•

en:disorganized growth plate cartilage

•

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

•

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

•

en:defective bile acid metabolism

•

en:decreased udp-glcnac

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased serum and muscle coenzyme q

•

en:decreased or normal plasma insulin

•

en:elevated dihydrobiopterin in csf

•

en:decreased or absent steroid sulfatase activity

•

en:decreased nasal nitric oxide (in some patients)

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:decreased mitochondrial complex iii activity in muscle

•

en:decreased hexokinase activity in red blood cells

•

en:decreased decr enzyme activity

•

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

•

en:decreased activity of the pdh phosphatase

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:creatine kinase normal between episodes

•

en:chylomicronemia, refractory fasting

•

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

•

en:increased circulating renin level

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:decreased plasma gonadotrophin

•

en:elevated hepatic transaminases

•

en:hereditary fructose intolerance

•

en:increased blood alanine

•

en:elevated plasma methionine (methioninemia)

•

en:hypoprebetalipoproteinemia

•

en:hypokalemia during periodic paralysis (most patients)

•

en:hypertriglyceridemia

•

en:hyperprolinemia (10-15 times normal)

•

en:hyperphosphatemia

•

en:hyperlipoproteinemia type i

•

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

•

en:homocystinuria

•

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

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:high ebv viral load

•

en:hyperchloremia (mean 114 mm)

•

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

•

en:elevated serum uric acid concentrations

•

en:hb h erythrocyte inclusions

•

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

•

en:globulin gamma serum plasma increased result

•

en:fucosidosis

•

en:foam cells in visceral organs and cns

•

en:elevated serum transaminase levels

•

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

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:fasting chylomicronemia

•

en:ethylmalonic aciduria

•

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

•

en:hematuria (less common)

•

en:lack of excessive parenchymal iron storage

•

en:irregularly shaped sperm heads

•

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

•

en:iodine depletion

•

en:low or absent prolactin (pl)

•

en:intracellular accumulation of unesterified cholesterol

•

en:low alkaline phosphatase

•

en:mitochondrial deletions

•

en:low or absent thyrotropin (tsh)

•

en:low plasma citrulline

•

en:marked elevation of erythrocyte sedimentation rate

•

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

•

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

•

en:neutral hyperaminoaciduria

•

en:increased urinary n-acetylated amino acids

•

en:intermediate level of cellular sensitivity to uv light

•

en:increased csf interferon

•

en:increased urinary acetoacetic acid

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:normal maltase, isomaltase, and sucrase activity

•

en:impaired creatine uptake in fibroblasts

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:increased csf lactate

•

en:increased free cyanocobalamin in fibroblasts

•

en:increased lysine in serum and csf

•

en:increased plasma pipecolic acid

•

en:increased urinary 3-oh-propionic acid

•

en:increased plasma vldl, ldl

•

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

•

en:increased serum bilirubin due to hemolysis

•

en:increased serum creatine kinase, mild

•

en:increased serum triiodothyronine (t3)

•

en:increased serum uric acid

•

en:increased urinary 2-hydroxybutyrate

•

en:normal lysosomal hydrolases

•

en:type iii collagen defect

•

en:normal number of t and b lymphocytes

•

en:thyroid hormones increased

•

en:serum chloride level decreased (finding)

•

en:serum creatine kinase may be normal or elevated

•

en:serum folate normal

•

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

•

en:skewed x-inactivation in females

•

en:thrombocytopenia

•

en:transient eosinophilia in first decade

•

en:serum alkaline phosphatase normal or mildly increased

•

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

•

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

•

en:unresponsive to acth stimulation

•

en:urine osmolarity decreased

•

en:urocanase deficiency

•

en:widespread interstitial fibrosis (visceral organs)

•

en:serum bicarbonate increased

•

en:sce normal in heterozygotes

•

en:normal or mildly decreased arylsulfatase a activity

•

en:no metabolic abnormalities

•

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

•

en:normal serum erythropoietin (epo, 133170)

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal to mildly increased serum creatine kinase

•

en:no evidence of intrauterine infection in mother or newborn

•

en:no hematuria

•

en:organic aciduria, mild (in some patients)

•

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

•

en:orotic aciduria

•

en:premature chromosome condensation

•

en:prominent leukocytosis (30,000/ml)

•

en:protein c decreased

•

en:prothrombin time low

•

en:reduced erythrocyte adenosine deaminase activity

•

en:reduced ferrochelatase activity

•

en:immotile cilia

◀

Génériques

[F] [H]

›

en:increased

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6880784 • caches: c1=24 c2=1028 c3=2

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