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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1969983

Associations d'idées

[F]

›

1000

en:serum cholesterol low or normal

•

en:relatively low urinary pge-m levels

•

en:round, yellow-brown dha urine crystals

•

en:cystathioninemia

•

en:defect in oxidative phosphorylation

•

en:elevated 1,25(oh)2 d3

•

en:elevated csf/plasma glycine ratio

•

en:glycogen storage disease type v

•

en:hyperprolinemia (10-15 times normal)

•

en:hypouricemia

•

en:increased prevalence among the native american lumbee indians

•

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

•

en:normal or decreased serum potassium

•

en:increased urinary excretion of camp

•

en:abnormal secretin test

•

en:immediate (type i) skin test reactivity

•

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

•

en:increased soluble il2 receptor

•

en:aminoaciduria (less common)

•

en:increased free erythrocyte protoporphyrin

•

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

•

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

•

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

•

en:deficiency of fructokinase

•

en:decreased serum factor h (atypical hus)

•

en:bile shows increased cholesterol/phospholipid ratio

•

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

•

en:abnormally low cerebrospinal fluid cystatin c

•

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

•

en:decreased phgdh activity (fibroblasts)

•

en:increased plasma proinsulin

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased urinary dicarboxylic acid, transient

•

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

•

en:increased urinary thymine

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:increased urinary n-acetylated amino acids

•

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

•

en:lactate pyruvate ratio normal

•

en:saccharopine dehydrogenase deficiency

•

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

•

en:decreased serum leptin

•

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

•

en:phytanic acid accumulation

•

en:amylo-1,6-glucosidase deficiency

•

en:decreased serum complement factor h

•

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

•

en:normal serum complement levels

•

en:sterol 27-hydroxylase deficiency

•

en:translocation between 18q21 and 14q32

•

en:absence of peroxidase staining in neutrophils and monocytes

•

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

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:decreased serum cholesterol (in some)

•

en:elevated urine unsulfated chondroitin sulfate

•

en:hematuria

•

en:decreased serum iga

•

en:n-glycosylation defect

•

en:translocation of chromosomes 9 and 13

•

en:increased serum beta-carotene

•

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

•

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

•

en:low or undetectable insulin

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

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

•

en:increased serum prostaglandin e2

•

en:increased serum methionine

•

en:serum testosterone decreased

•

en:decreased cpt1 activity

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:defects in mitochondrial oxidative phosphorylation

•

en:deficiency or absence of p91-phox protein

•

en:foam cells in visceral organs and cns

•

en:normal to slightly high alkaline phosphatase

•

en:impaired response to gm-csf

•

en:abnormal nasal potential difference

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:variable hyperlipidemia

•

en:increased urinary 3-methylcrotonylglycine

•

en:low alkaline phosphatase

•

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

•

en:some fragmented or disrupted golgi

•

en:blood pyruvic acid increased

•

en:hyposialylation of o-linked serum glycans

•

en:recurring t(11,14) and t(14,19)(q32,q13.1) translocations

•

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

•

en:increased serum methionine (reported in 2 cases)

•

en:increased creatine kinase (ck)

•

en:decreased plasma free carnitine

•

en:hematuria, gross and microscopic

•

en:epstein-barr viraemia

•

en:elevated plasma galactose (galactosemia)

•

en:urinary excretion of sialylated oligosaccharides

•

en:b lymphocytopenia

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

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

•

en:cellular arrest at g2 of the cell cycle

•

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

•

en:reticulocytosis

•

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

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:increased pristanic acid

•

en:increased plasma creatine

•

en:increased serum c-reactive protein, episodic

•

en:hypocalciuria or normocalciuria

•

en:glycogen storage disease type vi

•

en:elevated mchc

•

en:elevated il1-beta

•

en:decreased neopterin and biopterin in urine

•

en:decreased fibroblast beta-hexosaminidase

•

en:deficiency of laminin in basement membranes

•

en:elevated ast and ldh, especially infantile-onset

•

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

•

en:hyperammonemia

•

en:impaired platelet aggregation

•

en:increased rai (radioactive iodine) uptake

•

en:increased serum iduronate sulfatase

•

en:inner and outer dynein arm defects, variable

•

en:low or absent iga levels

•

en:mild hypertriglyceridemia

•

en:panhypogammaglobulinemia

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

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

•

en:decreased or normal serum c3

•

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

•

en:low fasting glucose (in some patients)

•

en:normal concentration of parathyroid hormone

•

en:prothrombin time increased

•

en:thyroid dyshormonogenesis 5

•

en:abnormal liver function tests (in some patients)

•

en:hyperthreoninemia

•

en:increased urinary succinic acid

•

en:increased urinary s-sulfocysteine

•

en:increased serum alanine

•

en:increased serum, urinary, and csf lysine

•

en:increased excretion of urobilinogen

•

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

•

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

•

en:elevated plasma levels of lp(a)

•

en:elevated plasma alloisoleucine

•

en:calcium normal

•

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

•

en:calciuria

•

en:serum ferritin normal

•

en:increased erythrocyte sedimentation rate, episodic

•

en:chromosomal instability

•

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

•

en:uric acid normal

•

en:normal baseline cortisol

•

en:ketoses, metabolic

•

en:increased urinary sialylglycopeptides

•

en:increased urinary potassium

•

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

•

en:increased uric acid level

•

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

•

en:hypercholesterolemia (in 75%)

•

en:farber lipogranulomatosis

•

en:elevated serum phosphorus

•

en:dhea sulfotransferase below limit of detection

•

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

•

en:isovaleric acidemia

•

en:variable defects of inner dynein arms

•

en:type i, classic, decreased antithrombin iii levels

•

en:some cilia show central complex and radial spoke defects

•

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

•

en:decreased hdl cholesterol

•

en:hyperlipoproteinemia type i

•

en:heteroplasmic partial duplication of mtdna

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

en:absence of cd59 expression on red cells

•

en:very low igm

•

en:low ldl cholesterol

•

en:absent or severely reduced levels of serum immunoglobulins

•

en:increased tissue long-chain acylcarnitines

•

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

•

en:serum and csf lactate may be increased

•

en:low plasma hdl

•

en:low copper and ceruloplasmin

•

en:indirect bilirubin increased

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:increased serum glutamine

•

en:elevated liver function tests

•

en:i-cell disease

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:elevated resting serum lactate, increased with exercise

•

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

•

en:low level of c4 and c2

•

en:march myoglobinuria

•

en:marked elevation of erythrocyte sedimentation rate

•

en:increased plasma vldl, ldl

•

en:moderate to severe thrombocytopenia (30-90 x 10(9)/l)

•

en:microscopic hematuria

•

en:mitochondria dna deletion

•

en:myoglobinuria after exertion (in some patients)

•

en:nadh-cytochrome b(5) reductase deficiency

•

en:lactate high

•

en:normal arterial oxygen saturation

•

en:lactic acidemia

•

en:increased transferrin saturation (>60%)

•

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

•

en:intermittent severe hypoglycemia (in some patients)

•

en:indirect hyperbilirubinemia

•

en:increased urinary malic acid

•

en:increased urinary hydroxyisovaleric acid

•

en:increased urinary excretion of cystine

•

en:increased urinary creatine

•

en:increased thyroid-stimulating hormone (tsh)

•

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

•

en:increased serum serotonin in 25%

•

en:increased serum gm-csf

•

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

•

en:normal number of t and b lymphocytes

•

en:normal cd8+/cd4+ ratio

•

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

•

en:normal or increased serum creatine kinase

•

en:positive urine dnph screening test

•

en:submucosal macrophages filled with sphingolipids

•

en:severe hypernatremia in neonatal period

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:serum transaminase increased

•

en:serum creatine kinase may be increased

•

en:serum cortisol elevated

•

en:serum calcium normal

•

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

•

en:reduced erythrocyte adenosine deaminase activity

•

en:pseudohypertriglyceridemia in adult form

•

en:prolonged bleeding time

•

en:predominance of the d-stereoisomer

•

en:positive kveim-siltzbach skin test

•

en:normal or increased serum phytanic acid

•

en:polycythemia

•

en:pcs involves most of all chromosomes of a metaphase

•

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

•

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

•

en:no hematuria

•

en:no chromosome breakage

•

en:normal urinary orotic acid

•

en:normal to increased plasma threonine

•

en:normal sedimentation rate

•

en:normal red cell counts

•

en:normal plasma renin

•

en:normal parathyroid hormone (female)

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:elevated total iron-binding capacity

•

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

•

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

•

en:decreased thyroxine level

•

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

•

en:decreased red cell pyruvate kinase activity

•

en:decreased or absent pts activity

•

en:decreased or absent dihydropteridine reductase activity

•

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

•

en:decreased fbp1 enzyme activity

•

en:decreased decr enzyme activity

•

en:decreased circulating cortisol level

•

en:decreased cerebrospinal fluid folic acid

•

en:decreased beta-galactosidase activity

•

en:decreased activity of aromatic l-amino acid decarboxylase (aadc)

•

en:defect in dna repair

•

en:cd4+/cd8+ ratio is reversed

•

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

•

en:amorphous hyaline substance (skin biopsy and visceral organs)

•

en:aminoaciduria (rare)

•

en:aminoaciduria

•

en:accumulation of guanidinoacetate in brain

•

en:abnormal liver function test

•

en:abnormal liver enzymes during illness

•

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

•

en:4-hydroxyphenyllactic aciduria

•

en:3-methylglutaric aciduria (3-mga)

•

en:type iii collagen defect

•

en:decreased urinary excretion of uromodulin

•

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

•

en:increased csf protein

•

en:homozygous 122kb deletion 11p15-p14

•

en:increased csf lactate

•

en:increased csf glycine

•

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

•

en:increased 18-ohb to aldosterone ratio

•

en:increased 11-deoxycortisol

•

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

•

en:hypomagnesemia

•

en:hypoglycemia, intermittent

•

en:hypogammaglobulinemia, profound

•

en:hyperuricosuria

•

en:hypertriglyceridemia

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:hla-dqw6 association (dqb1*0602)

•

en:dehydration

•

en:high nonceruloplasmin-bound serum copper

•

en:high m-component

•

en:galactosylation defects

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:excessive iodide trapping

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:elevated gamma-glutamyltransferase

•

en:elevated erythrocyte aicar (zmp)

•

en:elevated erythrocyte adenosine deaminase (eada)

•

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

•

en:electrocardiogram abnormal

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:t-lymphocytopenia

•

en:decreased serum thyroxine (t4)

•

en:unresponsive to acth stimulation

•

en:increased serum ferritin

•

en:low or normal serum igm

•

en:low csf creatinine

•

en:low-normal igm

•

en:iron low

•

en:iron deficiency

•

en:increased urinary tiglylglycine

•

en:increased urinary orotic acid (in some patients)

•

en:increased urinary oligosaccharides

•

en:increased urinary homovanillic acid (hva)

•

en:increased urinary dopamine

•

en:increased triglycerides (less common)

•

en:increased serum lysine (group b)

•

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

•

en:low to normal plasma methionine

•

en:increased serum and urinary lactate

•

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

•

en:increased interleukin 10

•

en:increased fractional excretion of uric acid

•

en:increased erythropoietin

•

en:increased csf taurine

•

en:increased csf lactate during acute episodes

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:hypoglycorrhachia (low glucose in csf)

•

en:hypoglycemia, fasting

•

en:hypobetalipoproteinemias

•

en:hypertriglyceridemia, transient

•

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

•

en:metachromasia of white blood cells and fibroblasts

•

en:hyperglycemia

•

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

•

en:undetectable plasma dbh activity

•

en:variable hypoglycemia

•

en:transient hyperlipidemia

•

en:transcobalamin ii deficiency

•

en:thyroid hormone organification defect

•

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

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

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 pristanic acid increased

•

en:serum iron normal

•

en:reduced iga

•

en:postprandial hyperglycemia (early in disease course)

•

en:normal csf neurotransmitters

•

en:plasma ammonia not elevated

•

en:pink urine

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:phosphaturia may disappear after a long period of time

•

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

•

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

•

en:normal pyridinoline excretion in urine

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:normal platelet aggregation response to arachidonic acid (aa), adenosine 5'-diphosphate (adp), collagen, and ristocetin

•

en:normal plasma total homocysteine

•

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

•

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

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:normal axonal flare response after intradermal histamine injection

•

en:hypergammaglobulinemia

•

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

•

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

•

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

•

en:decreased plasma glycine

•

en:decreased plasma apolipoprotein c-ii

•

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

•

en:decreased or absent apolipoprotein a-i

•

en:decreased methionine synthase activity

•

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

•

en:decreased csf serine

•

en:decreased csf glycine

•

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

•

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

•

en:decreased triiodothyronine level

•

en:cytogenetic deletion of chromosome 19q13

•

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

•

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

•

en:aminoaciduria (1 patient)

•

en:alpha ketoadipic aciduria

•

en:alpha 1 foetoprotein amniotic fluid increased

•

en:abnormal transaminases (1 patient)

•

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

•

en:abnormal oral glucose tolerance

•

en:hyperbilirubinemia in those with liver failure

•

en:5-alpha-reductase-2 enzyme deficiency

•

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

•

en:decreased serum vitamin a

•

en:decreased cortisol-binding globulin

•

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

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:hyperbilirubinemia

•

en:hyperammonemia after protein intake

•

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

•

en:defect in chylomicron secretion

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:high serum osmolality

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:hemizygous deletion at 4p16.3

•

en:glyoxalase deficiency

•

en:glycosuria

•

en:galactosemia

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:excessive urinary 5-oxo-l-proline

•

en:glomerular filtration rate decreased

•

en:elevated urinary mevalonic acid

•

en:elevated pregnenolone

•

en:dyskinetic ciliary motility

•

en:elevated fasting glucose

•

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

•

en:elevated plasma desmosterol

•

en:electrolyte disturbances from intractable diarrhea

•

en:elevated propionate

•

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

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:elevated pth (parathyroid hormone)

•

en:increased serum lactate in acute stage

•

en:increased serum creatine kinase in acute stage

•

en:increased serum lactate, particularly after exercise

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary and serum glycine

•

en:increased serum manganese

•

en:increased serum pyruvate

•

en:increased serum pyruvate in acute stage

•

en:increased serum s-adenosylhomocysteine

•

en:increased urinary 7-biopterin (primapterin)

•

en:increased serum unconjugated bilirubin

•

en:increased serum and csf glycine

•

en:increased serum bile acids

•

en:hyperalphalipoproteinemia

•

en:increased serum ammonia (group b)

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased ige level

•

en:increased gamma-interferon

•

en:increased csf homovanillic acid (hva)

•

en:increased csf and plasma gaba

•

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

•

en:igg deficiency

•

en:hyponatremia

•

en:hypoalbuminemia

•

en:hyperchloridura

•

en:homocysteinemia (in some patients)

•

en:increased urinary oxylate

•

en:hb h erythrocyte inclusions

•

en:hair bulb tyrosinase present

•

en:increased urinary excretion of l-xylulose

•

en:osteocalcin increased

•

en:increased urine oligosaccharides

•

en:nonketotic hypoglycemia

•

en:globulin gamma serum plasma increased result

•

en:protein urine absent

•

en:prominent leukocytosis (30,000/ml)

•

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

•

en:phosphorylase kinase normal in muscle

•

en:phospholipid antibody positive

•

en:organic aciduria, mild (in some patients)

•

en:no cartilage staining with toluidine blue

•

en:normal prolyl 4-hydroxylase activity

•

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

•

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

•

en:normal liver histology

•

en:normal constitutional karyotype

•

en:normal-to-decreased plasma glycine (fasting)

•

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

•

en:intermittent ethylmalonic aciduria

•

en:liver function tests normal

•

en:interstitial or terminal deletion of 18q

•

en:ketonuria

•

en:lactic acidosis

•

en:large spermatozoa

•

en:leukocytosis

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:low or low-normal serum t4

•

en:myoglobinuria (reported in 1 patient)

•

en:low or normal serum erythropoietin

•

en:low serum uric acid

•

en:low to very low hdl cholesterol

•

en:may have increased serum parathyroid hormone (pth)

•

en:mildly elevated hepatic enzymes

•

en:myoglobinuria

•

en:glycosuria (less common)

•

en:alkaline phosphatase serum increased

•

en:galactosuria

•

en:carnitine deficiency

•

en:decreased beta-oxidation of pristanic acid

•

en:decreased beta-glucosidase protein and activity

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:decreased acetyl-coa carboxylase activity

•

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

•

en:creatine phosphokinase serum increased

•

en:creatine kinase normal between episodes

•

en:creatine decreased

•

en:coombs positive hemolytic anemia

•

en:chronic hypercapnia

•

en:chromosome 11q23.3 deletion

•

en:chromosomal rearrangement

•

en:cholesterol low

•

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

•

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

•

en:decreased hexokinase activity in red blood cells

•

en:bone marrow hypoplasia (in some patients)

•

en:biotinidase deficiency

•

en:aneuploidy of the x chromosome

•

en:aminoaciduria, mild (in some patients)

•

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

•

en:absent axonal flare response after intradermal histamine injection

•

en:abnormal urinary compounds

•

en:abnormal liver function tests (less common)

•

en:abnormal liver enzymes, intermittent (1 patient)

•

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

•

en:abnormal fecal fat

•

en:abnormal cardiolipin subspecies composition

•

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

•

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

•

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

•

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

•

en:fumarase deficiency

•

en:electrolyturia (1 patient)

•

en:frequent deletions of chromosome 9 in melanoma

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:fasting chylomicronemia

•

en:excess protoporphyrin in bile and feces but not in urine

•

en:elevated urinary hyaluronic acid levels

•

en:elevated urinary delta-aminolevulinic acid

•

en:elevated sweat chloride (some)

•

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

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:elevated plasma acth

•

en:elevated liver enzymes

•

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

•

en:elevated dihydrobiopterin in csf

•

en:elevated alkaline phosphatase

•

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

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased s-ado:saicar ratio

•

en:decreased mitochondrial complex v assembly

•

en:decreased nk cells (in some patients)

•

en:decreased or absent histidase activity

•

en:decreased or absent serum ceruloplasmin

•

en:decreased or normal plasma insulin

•

en:decreased or normal serum factor b

•

en:decreased secretion of igf1 in response to gh administration

•

en:deletion of chromosome 18p11.2

•

en:decreased serum and muscle coenzyme q

•

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

•

en:decreased telomere length in lymphocytes

•

en:decreased urinary sulfate

•

en:decreased uros activity (1 patient)

•

en:decreased von willebrand factor

•

en:pyrimidinuria

•

en:hemoglobin decreased

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:increased serum lactate (patient a)

•

en:low serum magnesium

•

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

•

en:low leukocyte alkaline phosphatase activity

•

en:low absolute lymphocyte count

•

en:lower total cholesterol

•

en:keratan sulfaturia in some patients

•

en:karyotype analysis normal finding

•

en:intermittent increase of urinary ethylmalonic acid

•

en:increased very-long chain fatty acids

•

en:increased urine porphyrins at times

•

en:increased urinary prostaglandin e2

•

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

•

en:increased urinary acetoacetic acid

•

en:increased serum parathyroid hormone (pth)

•

en:increased serum growth hormone levels

•

en:low urinary cyclic amp response to pth administration

•

en:increased serum creatine kinase during episodes

•

en:increased serum creatine kinase (less common)

•

en:increased plasma phytanic acid

•

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

•

en:increased fas ligand

•

en:increased di- and asialo-transferrin

•

en:increased csf immunoglobulin levels

•

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

•

en:increased chromosomal breakage

•

en:increased alpha-fetoprotein (1 patient)

•

en:impaired n-glycosylation

•

en:immotile or weakly motile cilia

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hypophosphatemia (less common)

•

en:low to normal tsh (values may vary depending on the measurement methods used)

•

en:low urinary orotic acid

•

en:hypokalemia occurs during paralytic attacks

•

en:plasma aldosterone increased

•

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

•

en:hereditary coproporphyria

•

en:vitamin b12 deficiency (uncommon)

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:thyroid dyshormonogenesis 3

•

en:t-cell deficit

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:serum creatine kinase 20-70 times normal

•

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

•

en:reduced serum uric acid

•

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

•

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

•

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

•

en:positive urinary bratton-marshall test

•

en:parathyroid hormone normal

•

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

•

en:molybdenum cofactor deficiency

•

en:median mean platelet volume (mpv) 18fl

•

en:medium chain dicarboxylic aciduria

•

en:methemoglobin concentration 12 to 19%

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:mildly increased serum lactate

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:neonatal hyperbilirubinemia

•

en:no hyperuricemia

•

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

•

en:normal collagen type i studies

•

en:normal exocrine pancreatic function

•

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

•

en:normal serum phytanic and pristanic acid

•

en:normal transferrin isoelectric profile

•

en:hyponatremia in infancy

•

en:secondary decreases in complex i and iv activity

•

en:hypogammaglobulinemia

•

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

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:decreased activity of pyruvate dehydrogenase complex

•

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

•

en:decreased-absent intestinal mucosa lactase activity

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:chronic hypoxemia

•

en:cholesterol normal

•

en:cerebrospinal fluid lymphocytosis

•

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

•

en:atrial abnormalities on electrocardiogram

•

en:anomalies of cholesterol levels

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:abnormal urinary organic acids

•

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

•

en:decreased iga, igg, igm

•

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

•

en:3-methylglutaric aciduria

•

en:'cloudy' or 'pink' blood (lipemia)

•

en:urinary prostaglandin e

•

en:urinary excretion of mucopolysaccharides

•

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

•

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

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

en:thyroid peroxidase defect

•

en:serum phosphate normal

•

en:serum creatinine raised

•

en:serum calcitonin, increased

•

en:hyperuricuria

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:decreased erythrocyte plasmalogen

•

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

•

en:decreased levels of cpt2 protein

•

en:elevated serum lactate

•

en:hyperthreoninuria

•

en:decreased mitochondrial respiratory complexes i, iii, and iv in brain, heart, and skeletal muscle

•

en:hyperphosphatemia, transient

•

en:hyperoxalaemia

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

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

•

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

•

en:hepatic argininosuccinase deficiency

•

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

•

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

•

en:fragmentation of the mitochondrial network

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:fasting hyperinsulinemia

•

en:elevated serum transferrin saturation

•

en:hypermagnesemia

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:decreased switched memory b cells

•

en:decreased or absent serum citrulline

•

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

•

en:elevated plasma ammonia

•

en:decreased plasmalogens

•

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

•

en:decreased renal calcium excretion

•

en:hyperprolinemia (5-10 times normal)

•

en:defect in n- and o-glycosylation

•

en:distal xp22.3 segmental monosomy

•

en:elevated 17-hydroxyprogesterone

•

en:elevated alpha-ketoglutarate (in most patients)

•

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

•

en:deficient efflux of intracellular cholesterol

•

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

•

en:low-to-normal platelet count

•

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

•

en:long-chain ketonuria

•

en:low 25-oh-vitamin d level

•

en:iron binding capacity total increased

•

en:increased urinary tricarboxylic acid intermediates

•

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

•

en:increased urinary neopterin

•

en:increased urinary carnitine esters

•

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

•

en:increased serum thymidine

•

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

•

en:increased serum alkaline phosphatase (in some patients)

•

en:increased serum lipoproteins

•

en:increased serum deoxyuridine

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:increased serum 1,25-dihydroxyvitamin d

•

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

•

en:increased intracellular fmrp mrna

•

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

•

en:increased csf, plasma, and urinary 3-ortho-methyldopa (3-omd)

•

en:increased biliverdin in bodily fluids

•

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

•

en:hypoprebetalipoproteinemia

•

en:hyponatremic dehydration, rarely

•

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

•

en:hypofibrinogenemia

•

en:increased il-8

•

en:normal serum erythropoietin (epo, 133170)

•

en:low plasma free and total carnitine

•

en:platelet aggregation decreased

•

en:subtelomeric deletion of chromosome 16p

•

en:high sister chromatid exchange (sce) rate

•

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

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:shortened telomeres (classic feature, nola3 patient)

•

en:shortened metaphase

•

en:serum complement decreased

•

en:routine liver function tests normal

•

en:rheumatoid factor positive (finding)

•

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

•

en:reduced erythrocyte gs activity

•

en:proteinuria (type ii, congenital)

•

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

•

en:low serum acth

•

en:normal serum phosphorus

•

en:normal maltase, isomaltase, and sucrase activity

•

en:normal lysyl oxidase activity

•

en:normal extrarenal responses to ddavp administration

•

en:normal erythrocyte gs activity

•

en:normal ciliary structure and function

•

en:normal 46,xy karyotype

•

en:monoclonal gammopathy

•

en:mildly prolonged bleeding time 10-12 minutes

•

en:microtubule disorganization in some cilia

•

en:methylsuccinic aciduria

•

en:methylmalonic aciduria, mild

•

en:median mean platelet volume (mpv) 12.5fl

•

en:hydrocortisone decreased

•

en:decreased monoamine oxidase a activity

•

en:high plasma asparagine

•

en:chylomicronemia, refractory fasting

•

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

•

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

•

en:decreased dna excision repair

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased copper, iron, zinc

•

en:decreased c3 activity

•

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

•

en:decreased antithrombin iii (rare)

•

en:decreased activity of the pdh phosphatase

•

en:decreased activity of complement factor d

•

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

•

en:decreased acid sphingomyelinase activity

•

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

•

en:decreased neopterin and biopterin in csf

•

en:cerebrospinal fluid oligoclonal bands

•

en:cd4/cd8 ratio decreased

•

en:ballooned neurons

•

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

•

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

•

en:albuminuria

•

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

•

en:absent ch50 activity in complete c4 deficiency

•

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

•

en:abnormal serum transferrin pattern (in some patients)

•

en:2-oxoadipic aciduria

•

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

•

en:transient neonatal hypoglycemia (2p21del)

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:decreased serum ceruloplasmin

•

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

•

en:elevated urinary epinephrine

•

en:hematuria (less common)

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:greatly increased dopamine in plasma, urine, csf (approximately 10-fold increase)

•

en:gm2-ganglioside accumulation

•

en:generalized aminoaciduria

•

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

•

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

•

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

•

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

•

en:exercise-induced myoglobinuria

•

en:ethylmalonic aciduria

•

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

•

en:elevated urinary 2-ethylhydracrylate

•

en:decreased serum igm

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:elevated serum acid phosphatase

•

en:elevated prothrombin time

•

en:elevated plasma methionine (methioninemia)

•

en:elevated biopterin in csf

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

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

•

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

•

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

•

en:defect in mitochondrial and peroxisomal fission

•

en:decreased tissue total and free carnitine

•

en:decreased serum rt3

•

en:tenascin x deficiency (serum and fibroblasts)

•

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

•

en:tyrosinemia (transient, resolves in infancy)

•

en:increased urinary ketones

•

en:methioninuria

•

en:markedly reduced igg levels

•

en:low total serum protein

•

en:low serum cortisol

•

en:low rai (radioactive iodine) uptake

•

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

•

en:lactic acidemia (2p21del)

•

en:lack of excessive parenchymal iron storage

•

en:ketonuria, acute

•

en:isovalericaciduria

•

en:infantile hypophosphatasia

•

en:increased urinary thiosulfate

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:nephrotic syndrome

•

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

•

en:increased urinary carnitine

•

en:increased total and conjugated bilirubin

•

en:increased tissue levels of free fatty acids

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum triiodothyronine (t3)

•

en:increased serum total cholesterol

•

en:increased serum lactate (in some patients)

•

en:increased serum bilirubin due to hemolysis

•

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

•

en:increased serum acyl carnitines

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:microsomal hmg-coa reductase decreased

•

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

•

en:increased plasma and urinary pipecolic acid

•

en:prolinuria

•

en:urine uric acid decreased

•

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

•

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

•

en:some cilia show abnormal beating patterns or immotility

•

en:serum gastrin increased

•

en:serum creatine kinase may be normal or increased

•

en:serum copper decreased

•

en:serum cholesterol raised

•

en:reduced igg levels, particularly igg2 subclass

•

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

•

en:protein total decreased

•

en:proper antibody response to protein vaccinations

•

en:platelet glycoprotein iiia deficiency

•

en:normal csf 5-hiaa

•

en:pipecolic acid accumulation.

•

en:patient cells show abnormal mitochondrial morphology

•

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

•

en:partial deficiency of factor xii(c)

•

en:no mucopolysacchariduria

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:no chromosomal breakage

•

en:no c8 antigen detected

•

en:normal renin level

•

en:normal platelet aggregation response to epinephrine, arachidonic acid (aa), adenosine 5'-diphosphate (adp), collagen, and ristocetin

•

en:normal plasma phytanic acid

•

en:normal or increased serum phosphate

•

en:normal igg levels

•

en:increased platelet aggregation with ristocetin

•

en:normal-elevated plasma testosterone (male range)

•

en:increased phytanic acid in body tissues and fluids

•

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

•

en:decreased or absent glycogen branching enzyme activity

•

en:decreased nasal nitric oxide

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased levels of the e2 subunit protein

•

en:decreased levels of plasma factor viii

•

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

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

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

•

en:decreased glomerular filtration rate (gfr)

•

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

•

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

•

en:decreased cholesterol (less common)

•

en:decreased acid beta galactosidase protein and activity

•

en:decreased serum free thyroxine

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:csf pleocytosis, particularly of lymphocytes

•

en:creatine kinase levels may normalize with disease progression

•

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

•

en:azotemia

•

en:allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma

•

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

•

en:accumulation of cholesterol esters in various tissues

•

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

•

en:abnormal liver function tests (sgot, sgpt)

•

en:very long chain fatty acid accumulation

•

en:urocanase deficiency

•

en:increased il18

•

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

•

en:decreased b cells

•

en:decreased serum iron (in some patients)

•

en:galactosuria without galactosemia

•

en:increased igg level

•

en:decreased telomerase activity

•

en:increased csf protein during acute illness

•

en:increased csf interferon alpha

•

en:increased creatinine

•

en:increased 11-deoxycorticosterone

•

en:immunoglobulin a decreased

•

en:hypoproteinemia due to hypercatabolism

•

en:hyperphenylalaninemia

•

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

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

en:gonadotrophin increased

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:hypercalciuria

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:elevated plasma cholestanol

•

en:decreased thrombospondin

•

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

•

en:delta-1-pyrroline-3-hydroxy-5-carboxylate levels increased in urine

•

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

•

en:elevated levels of vitamin b12

•

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

•

en:elevated plasma luteinizing hormone (lh)

•

en:euvolemia

•

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

•

en:ferritin decreased

•

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

•

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

•

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

•

en:increased serum transferrin

•

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

•

en:increased urinary catecholamines

•

en:increased urinary citric acid cycle intermediates

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increased urinary excretion of coproporphyrin i

•

en:increased urinary phospholipids

•

en:intermediate level of cellular sensitivity to uv light

•

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

•

en:kypokalemia

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:hyperprostaglandinuria

•

en:increased serum arylsulfatase a.

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased serum acylcarnitines

•

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

•

en:increased plasma renin activity

•

en:increased plasma free cholesterol

•

en:increased csf transferrin despite normal serum transferrin levels

•

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

•

en:increased bile acid intermediates (dhca and thca)

•

en:increased 18-hydroxycortisol

•

en:impairment of urinary concentration

•

en:hypoketotic hypoglycemia

•

en:hypoalbuminemia (in 83%)

•

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

•

en:lactate dehydrogenase increased

•

en:vacuolated lymphocytes

•

en:low serum levels of branched-chain amino acids

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:very low leptin level

•

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

•

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

•

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

•

en:transient neonatal hypocalcemia (2p21del)

•

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

•

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

•

en:serum prolactin increased

•

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

•

en:reduced unsaturated serum cobalamin binding capacity

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:platelet antibody positive

•

en:plasma protein c deficiency

•

en:patient cells show increased chromosome breakage

•

en:methylglutaconic aciduria, mild

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

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

•

en:normal urinary cyclic amp response to pth administration

•

en:normal tyrosinase

•

en:normal sweat electrolytes

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:normal calcium (female)

•

en:neutrophilia, both basal and during infections

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

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

•

en:monomeric igm

•

en:mild to moderate hyperammonemia

•

en:mild elevation of triglycerides

•

en:microduplication of chromosome 5p13

•

en:hypermethioninemia, progressive

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6881190 • caches: c1=20 c2=1328 c3=323

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