Diko : en:marked elevation of erythrocyte sedimentation rate

en:marked elevation of erythrocyte sedimentation rate

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C3278276

Associations d'idées

[F]

›

1000

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

•

en:increased urinary 7-biopterin (primapterin)

•

en:no chromosomal breakage

•

en:decreased activity of the pyruvate dehydrogenase complex (highly variable, 1-70% of controls)

•

en:gamma-glutamylcysteine deficiency

•

en:high sweat sodium and chloride

•

en:glycogen storage disease type v

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

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

•

en:dyskinetic ciliary motility

•

en:increased urinary catecholamines

•

en:methylglutaconic aciduria, mild

•

en:normal activity of von willebrand factor-cleaving protease

•

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

•

en:deficiency or absence of p22-phox protein

•

en:increased urinary adenosine

•

en:intermittent ethylmalonic aciduria

•

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

•

en:normal constitutional karyotype

•

en:normal or mildly increased serum creatine kinase

•

en:no increased sensitivity to oxidative species

•

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

•

en:decreased csf glycine

•

en:elevated plasma luteinizing hormone (lh)

•

en:hypercholesterolemia (in 75%)

•

en:microsomal hmg-coa reductase decreased

•

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

•

en:plasma aldosterone increased

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:vitamin b12 deficiency (uncommon)

•

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

•

en:normal serum liver enzymes

•

en:normal serum complement levels

•

en:liver transaminases normal to slightly increased

•

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

•

en:deficiency or absence of p91-phox protein

•

en:decreased or normal serum factor b

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

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

•

en:translocation between 18q21 and 14q32

•

en:hair bulbs will pigment when incubated with tyrosine

•

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

•

en:hypermethioninemia, progressive

•

en:hypergammaglobulinemia

•

en:increased urinary vanillylmandelic acid (vma)

•

en:elevated urinary phosphoethanolamine

•

en:defective dna repair

•

en:decreased urinary calcium and phosphate excretion

•

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

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:cilia show inner and outer dynein arm defects

•

en:decreased complement factor d

•

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

•

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

•

en:fasting hypoglycemia (early in disease course)

•

en:fibrinogen decreased

•

en:hypocalciuria

•

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

•

en:ethylmalonic aciduria

•

en:inner and outer dynein arm defects, variable

•

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

•

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

•

en:increased serum transferrin

•

en:increased serum alpha-mannosidase

•

en:low acth level

•

en:no lactic acidosis

•

en:elevated liver function tests

•

en:decreased whole blood serotonin

•

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

•

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

•

en:decreased or absent udp-glucuronyl-transferase activity

•

en:decreased serum igm

•

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

•

en:elevated urinary 3-methylglutarate

•

en:fibronectin decreased

•

en:increased prv-1 (162860) mrna

•

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

•

en:absent 7-dehydrocholesterol

•

en:absent dystrophin on muscle biopsy

•

en:adrenocorticotropic hormone, increased

•

en:decreased intracellular fmr protein

•

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

•

en:decreased phk activity in liver

•

en:no ketonuria

•

en:serum cholesterol raised

•

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

•

en:decreased plasma total and free carnitine

•

en:parathyroid hormone normal

•

en:platelet factor 4 decreased

•

en:no c8 antigen detected

•

en:normal calcium (female)

•

en:mildly elevated hdl in heterozygotes

•

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

•

en:at least 2 complementation groups

•

en:decreased serum haptoglobin (in some patients)

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:abnormal urinary organic acids

•

en:hypoglycemia

•

en:myoglobinuria (reported in 1 patient)

•

en:pyrimidinuria

•

en:increased urinary tiglylglycine

•

en:elevated white blood cell cystine

•

en:increased serum levels of free plasma thyroid hormones

•

en:increased urinary 3-oh-propionic acid

•

en:neutropenia

•

en:normal sweat electrolytes

•

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

•

en:immotile or weakly motile cilia

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:decreased plasma gonadotrophin

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:hyperchloremia (mean 109 mm)

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:pseudohypertriglyceridemia in adult form

•

en:urinary prostaglandin e

•

en:decreased apoa-i and apoa-ii

•

en:lactate pyruvate ratio normal

•

en:low cd4+ count

•

en:low serum cortisol

•

en:methioninuria

•

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

•

en:thyroid dyshormonogenesis 5

•

en:decreased fibrillin-1 immunostaining in the dermis

•

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

•

en:low to very low hdl cholesterol

•

en:increased urinary l-glycerate

•

en:propionic acidemia

•

en:elevated plasma acth

•

en:elevated csf glycine

•

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

•

en:decreased secretion of igf1 in response to gh administration

•

en:platelet function test normal

•

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

•

en:serum creatine kinase may be normal or elevated

•

en:increased csf interferon alpha

•

en:2-aminoadipic aciduria

•

en:serum creatine kinase may be normal or increased

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:low plasma citrulline

•

en:increased urinary dopamine

•

en:decreased sulfite oxidase activity

•

en:decreased or absent serum citrulline

•

en:decreased nasal nitric oxide

•

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

•

en:increased serum manganese

•

en:increased plasma progastrin

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased serum beta-hexosaminidase

•

en:increased serum creatine kinase (1 family)

•

en:increased serum glycerol

•

en:increased urinary excretion of cystine

•

en:increased serum methionine (reported in 2 cases)

•

en:increased serum pyruvate

•

en:increased total bilirubin may occur

•

en:increased urinary creatine

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased urine vanillactic acid (vla)

•

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

•

en:increased csf glycine

•

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

•

en:increased intracellular fmrp mrna

•

en:increased il-8

•

en:increased free cyanocobalamin in fibroblasts

•

en:increased excretion of urobilinogen

•

en:iron binding capacity total increased

•

en:increased circulating renin level

•

en:increased bone serum acid phosphatase

•

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

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:impaired mitochondrial translation

•

en:igg, decreased

•

en:hypokalemia

•

en:hypocalcemia

•

en:incresased urinary pyruvate

•

en:low or low-normal serum t4

•

en:isovaleric acidemia

•

en:neuraminidase deficiency (white blood cells, fibroblasts, cultured amniotic cells)

•

en:prolonged activated partial prothrombin time (appt)

•

en:positive urine dnph screening test

•

en:phospholipid antibody positive

•

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

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:normal urinary orotic acid

•

en:normal serum erythropoietin (epo, 133170)

•

en:normal serum 25-hydroxyvitamin d3

•

en:normal plasma renin

•

en:normal leukocyte and platelet counts

•

en:normal isoelectric focusing of serum transferrin

•

en:normal igm levels

•

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

•

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

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

en:lack of lysosomal inclusions in visceral organs

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

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

•

en:monoclonal gammopathy

•

en:mild eosinophilia may occur

•

en:mildly elevated blood ammonia

•

en:microscopic hematuria

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:low serum uric acid

•

en:low serum levels of ketone bodies

•

en:low serum calcium

•

en:hyperchloridura

•

en:low csf creatine

•

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

•

en:low-molecular-weight proteinuria

•

en:hypercholesterolemia (reported in 2 patients)

•

en:hereditary angioedema

•

en:hypercalciuria (in childhood)

•

en:aminoaciduria (rare)

•

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

•

en:decreased activity of mitochondrial respiratory complexes

•

en:decreased activities of multiple sulfatases

•

en:d-2-hydroxyglutaric aciduria

•

en:contiguous gene deletion syndrome

•

en:cholesterol low

•

en:cd4+/cd8+ ratio is reversed

•

en:broad tissue deposition of amylopectin-like material

•

en:blood urea nitrogen increased

•

en:bilirubin conjugated increased

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

en:ballooned neurons

•

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

•

en:alpha-fetoprotein normal

•

en:decreased hexokinase activity in red blood cells

•

en:alkaline phosphatase serum increased

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

en:absent tyrosinase activity

•

en:absent axonal flare response after intradermal histamine injection

•

en:abnormal urinary oligosaccharides

•

en:abnormal serum liver enzyme levels

•

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

•

en:abnormal nuclear morphology

•

en:abnormal liver function tests (less common)

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:abnormal liver enzymes, episodic

•

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

•

en:abnormal dystrophin on muscle biopsy

•

en:protein urine absent

•

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

•

en:decreased mitochondrial complex iii activity in muscle

•

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

•

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

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:heteroplasmic partial duplication of mtdna

•

en:hereditary fructose intolerance

•

en:hepatic lipase deficiency (disorder)

•

en:hemizygous deletion at 7q11.23

•

en:glycosuria (less common)

•

en:glutathione deficiency

•

en:fumarase deficiency

•

en:factor vii deficiency

•

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

•

en:epstein-barr viraemia

•

en:elevated sweat chloride (some)

•

en:elevated liver enzymes

•

en:elevated leukotriene e(4)

•

en:elevated gamma-glutamyltransferase

•

en:decreased or absent histidase activity

•

en:elevated fecal levels of protoporphyrin and coproporphyrin at all times

•

en:elevated ast and ldh, especially infantile-onset

•

en:deletion of chromosome 18p11.2

•

en:dehydration

•

en:defect in mitochondrial and peroxisomal fission

•

en:defect in dna repair

•

en:defects in mitochondrial oxidative phosphorylation

•

en:defective mitochondrial respiratory enzyme activity

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased serum factor i (atypical hus)

•

en:decreased plasma arginine

•

en:decreased or absent serum ceruloplasmin

•

en:decreased or absent pts activity

•

en:prolonged prothrombin and partial thromboplastin times

•

en:shortened telomeres (classic feature, nola3 patient)

•

en:raised tsh level

•

en:lactic acidemia (2p21del)

•

en:neonatal hyperbilirubinemia

•

en:mildly elevated urinary mevalonic acid

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:microduplication of chromosome 5p13

•

en:microdeletion 22q11.2

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:median mean platelet volume 13fl

•

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

•

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

•

en:low csf creatinine

•

en:low-to-normal csf lactate

•

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

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:lack of excessive parenchymal iron storage

•

en:normal collagen type i studies

•

en:kypokalemia

•

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

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:increased urinary sialylglycopeptides

•

en:increased urinary lactate

•

en:increased urinary 2-hydroxybutyrate

•

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

•

en:increased serum total cholesterol

•

en:increased serum s-adenosylmethionine

•

en:increased serum lactate

•

en:increased serum fgf23

•

en:increased serum creatine kinase during episodes

•

en:increased serum c-reactive protein, episodic

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:neutrophilia, both basal and during infections

•

en:normal csf neurotransmitters

•

en:increased c10:2-carnitine

•

en:protein total decreased

•

en:very low leptin level

•

en:relatively low urinary pge-m levels

•

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

•

en:urine cortisol, increased

•

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

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:tyrosinemia

•

en:tryptophanuria

•

en:t-cell deficit

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:serum bilirubin increased

•

en:schirmer test shows alacrima

•

en:saposin a deficiency (finding)

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:prolinuria

•

en:normal renin level

•

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

•

en:platelet antibody positive

•

en:pipecolic acid accumulation.

•

en:phosphaturia may disappear after a long period of time

•

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

•

en:pancreatic trypsinogen deficiency

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:occasional hypomagnesemia

•

en:no hyperuricemia

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:no evidence of common prenatal infections

•

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

•

en:normal serum cobalamin (vitamin b12)

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:increased creatinine

•

en:multiple tissue biopsies show lysosomal storage disease

•

en:impaired oxidation of pyruvate

•

en:absence of cpt ii protein

•

en:decreased plasma and urinary ornithine

•

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

•

en:decreased glomerular filtration rate (gfr)

•

en:decreased erythrocyte plasmalogen

•

en:decreased dermal hydroxylysine content

•

en:decreased cortisol-binding globulin

•

en:cutaneous anergy

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:ceruloplasmin decreased

•

en:atrial abnormalities on electrocardiogram

•

en:anomalies of cholesterol levels

•

en:aminoaciduria (1 patient)

•

en:aminoaciduria, intermittent

•

en:accumulation of cholesterol esters in various tissues

•

en:abnormal nasal potential difference

•

en:decreased serum bun

•

en:abnormal liver enzymes (1 patient)

•

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

•

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

•

en:undetectable urinary hypoxanthine

•

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

•

en:tsh decreased

•

en:thyroid hormones increased

•

en:sterol 27-hydroxylase deficiency

•

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

•

en:serum osmolality decreased

•

en:serum growth hormone increased

•

en:hypophosphatemia (less common)

•

en:serum complement decreased

•

en:serum calcitonin, increased

•

en:decreased scad activity

•

en:serum corticosterone increased

•

en:decreased serum iga

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:hypokalemia occurs during paralytic attacks

•

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

•

en:hypertriglyceridemia (rare)

•

en:hypernatriuria

•

en:hyperhomocystinemia

•

en:hyperbilirubinemia in those with liver failure

•

en:hydroxyprolinuria

•

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

•

en:hereditary xanthinuria

•

en:hereditary factor x deficiency

•

en:hemizygous deletion at 4p16.3

•

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

•

en:farber lipogranulomatosis

•

en:eosinophilia, mild

•

en:hyperthreoninuria

•

en:elevated testosterone

•

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

•

en:elevated serum levels of adenosine

•

en:decreased thrombospondin

•

en:defective (ca2+) mobilization in t cells

•

en:defect in n- and o-glycosylation

•

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

•

en:decreased switched memory b cells

•

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

•

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

•

en:elevated ferritin l subunit

•

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

•

en:elevated mchc

•

en:elevated sepiapterin in csf

•

en:increased csf homovanillic acid (hva)

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased urinary 3-methylglutaconic acid

•

en:increased urinary and serum glycine

•

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

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased urinary neopterin

•

en:increased urinary succinic acid

•

en:low apolipoprotein

•

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

•

en:ketosis

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:lack of ciliary motility

•

en:increased plasma lactate

•

en:increased serum serotonin in 25%

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum pyruvate in acute stage

•

en:increased serum lactate in acute stage

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased prevalence among the native american lumbee indians

•

en:increased plasma branched-chain fatty acids

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased osmotic fragility

•

en:increased levels of carcinoembryonic antigen

•

en:increased lactate in spinal fluid

•

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

•

en:increased csf threonine

•

en:low or absent luteinizing hormone (lh)

•

en:increased csf lactate

•

en:low level of c4 and c2

•

en:normal serum phosphorus

•

en:low or normal serum erythropoietin

•

en:normal urinary 17-ketosteroids

•

en:increased 18-ohb to aldosterone ratio

•

en:serum ammonia increased

•

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

•

en:reduced ferrochelatase activity

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

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

•

en:positive kveim-siltzbach skin test

•

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

•

en:plasma catecholamines decreased

•

en:partial deficiency of factor xiii(c)

•

en:parathyroid hormone level increased

•

en:osteocalcin increased

•

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

•

en:organic aciduria, mild (in some patients)

•

en:normal to mildly increased serum creatine kinase

•

en:median mean platelet volume (mpv) 20fl

•

en:normal serum plasmalogen

•

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

•

en:normal serum cobalamin

•

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

•

en:normal plasma and tissue carnitine

•

en:normal or decreased serum potassium

•

en:normal lysyl oxidase activity

•

en:normal blood lactate

•

en:neutral hyperaminoaciduria

•

en:myoglobinuria

•

en:mitochondrial malonyl-coa decarboxylase activity in fibroblasts is very low (as low as 4%)

•

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

•

en:methylenetetrahydrofolate reductase deficiency

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

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

•

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

•

en:hypoglycemia, intermittent

•

en:decreased aminoacylase-1 activity

•

en:decreased urinary sulfate

•

en:decreased tissue total and free carnitine

•

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

•

en:decreased serum rt3

•

en:decreased s-ado:saicar ratio

•

en:decreased plasma lpl levels (in some patients)

•

en:decreased nasal nitric oxide (in some patients)

•

en:decreased monoamine oxidase a activity

•

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

•

en:decreased levels of serum vitamin b12

•

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

•

en:decreased hepatic gaba transaminase activity

•

en:decreased fibroblast iduronate sulfatase

•

en:decreased beta-oxidation of pristanic acid

•

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

•

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

•

en:decreased activity of thymidine phosphorylase

•

en:decreased acetyl-coa carboxylase activity

•

en:creatine decreased

•

en:cerebrospinal fluid oligoclonal bands

•

en:cells show increased sensitivity to ionizing radiation

•

en:absent or abnormal thyroglobulin

•

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

•

en:abnormal n-glycosylation of transferrin

•

en:aberrant gamma-interferon-mediated inflammation

•

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

•

en:4-hydroxyphenyllactic aciduria

•

en:3-methylglutaric aciduria (3-mga)

•

en:3-methylglutaconic aciduria (3-mgc)

•

en:serum thiamine is normal

•

en:deficiency of laminin in basement membranes

•

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

•

en:hypoalphalipoproteinemia

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:hypertryptophanemia

•

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

•

en:hyperarginemia

•

en:hyperammonemia, episodic

•

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

•

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

•

en:frequent deletions of chromosome 9 in melanoma

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:fasting chylomicronemia

•

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

•

en:elevated urinary hyaluronic acid levels

•

en:elevated total bilirubin

•

en:elevated serum uric acid concentrations

•

en:elevated pyruvate (in most patients)

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:elevated progesterone

•

en:elevated plasma phytanic acid

•

en:elevated plasma levels of lp(a)

•

en:elevated plasma estrogen

•

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

•

en:elevated liver transaminases

•

en:elevated fasting triglycerides

•

en:elevated erythrocyte aicar (zmp)

•

en:elevated creatine kinase (in some patients)

•

en:elevated biopterin in csf

•

en:elevated alkaline phosphatase

•

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

•

en:electrolyturia (1 patient)

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:serum cortisol elevated

•

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

•

en:systemic amyloidosis may occur

•

en:increased urinary glutaric acid

•

en:mild elevation of cholesterol

•

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

•

en:low urinary cyclic amp response to pth administration

•

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

•

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

•

en:low growth hormone levels

•

en:liver phosphorylase kinase (phk) deficiency

•

en:keratan sulfaturia in some patients

•

en:iodine depletion

•

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

•

en:increased urinary orotic acid (in some patients)

•

en:increased urinary ketones

•

en:increased urinary homovanillic acid (hva)

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:monomeric igm

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

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

•

en:increased serum arylsulfatase a.

•

en:increased serum acyl carnitines

•

en:increased serum acylcarnitines

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:increased plasma proglucagon

•

en:increased plasma long-chain acylcarnitines

•

en:increased lactate: pyruvate ratio (group b)

•

en:increased igg level

•

en:increased di- and asialo-transferrin

•

en:increased csf histidine

•

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

•

en:increased biopterin in urine and csf

•

en:molybdenum cofactor deficiency

•

en:normal apoa-ii levels in homozygotes

•

en:igg, elevated

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:transaminitis

•

en:undetectable serum l-transferrin (homozygous patient)

•

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

•

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

•

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

•

en:thyroid hormone organification defect

•

en:thrombocytosis (in some patients)

•

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

•

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

•

en:serum phosphate concentration below normal

•

en:serum homocysteine normal

•

en:serum folate low

•

en:rheumatoid factor negative

•

en:pt normal

•

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

•

en:normal cerebrospinal fluid

•

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

•

en:phosphaturia

•

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

•

en:paraproteinemia

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

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

•

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

•

en:no evidence of perinatal infection

•

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

•

en:normal serum transferrin profiles

•

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

•

en:normal male karyotype (46,xy)

•

en:normal lactate (hcs)

•

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

•

en:impaired response to gm-csf

•

en:proteinuria

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:chronic hypoxemia

•

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

•

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

•

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

•

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

•

en:decreased b cells

•

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

•

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

•

en:decreased activity of nadph oxidase

•

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

•

en:decreased activity of mitochondrial complex i

•

en:decreased-absent intestinal mucosa lactase activity

•

en:cytoplasmic lamellar concentric inclusions

•

en:cystathionine beta-synthase deficiency disease

•

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

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

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

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

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

•

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

•

en:acth normal

•

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

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abnormal liver enzymes (rare)

•

en:abnormal eeg in 25% hospitalized patients

•

en:3-methylglutaric aciduria

•

en:vitamin b12 deficiency (in some patients)

•

en:type i, classic, decreased antithrombin iii levels

•

en:transient neonatal hypoglycemia (2p21del)

•

en:hypoproteinemia due to hypercatabolism

•

en:decreased iga, igg, igm

•

en:absent igg2 subclass

•

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

•

en:high ornithine

•

en:hypoglycorrhachia (low glucose in csf)

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:hypoglycemia, fasting

•

en:hypocitraturia

•

en:hypocalcemia (male)

•

en:hyperuricuria

•

en:hypermagnesemia

•

en:hyperlipoproteinemia type iib

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:hypercholesterolemia

•

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

•

en:hyperbilirubinemia

•

en:high sweat electrolyte

•

en:high plasma citrulline (100-300 micromolar)

•

en:hypertriglyceridemia, transient

•

en:hepatic glycine cleavage defect

•

en:elevated hcg (choriocarcinoma)

•

en:decreased serum vitamin a

•

en:decreased serum ferritin

•

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

•

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

•

en:elevated androstenedione

•

en:elevated 8-dehydrocholesterol

•

en:elevated pth (parathyroid hormone)

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:gonadotrophin increased

•

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

•

en:glycinuria

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:decreased serum free thyroxine

•

en:normal endocrinologic studies (growth hormone, somatomedin c, thyroid function)

•

en:peroxisome deficiency

•

en:pentagastrin stimulation test

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:partial deficiency of factor xi (less common)

•

en:normal sweat chloride (3 of 3 patients)

•

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

•

en:normal or mildly reduced serum cobalamin

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal liver histology

•

en:low to normal serum calcium

•

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

•

en:normal complex ii activity

•

en:methionine adenosyltransferase deficiency

•

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

•

en:may have increased serum parathyroid hormone (pth)

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:low serum alpha-fetoprotein (recessive)

•

en:low plasma tryptophan (inflammatory type b)

•

en:karyomegaly may be found in other visceral organs

•

en:iron overload (in some patients)

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:indirect hyperbilirubinemia

•

en:prolonged partial thromboplastin time

•

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

•

en:reduced platelet glycoprotein ib complex

•

en:abetalipoproteinemia (lab finding)

•

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

•

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

•

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

•

en:antineutrophil antibody positivity

•

en:anti-ssb positive

•

en:androgens increased

•

en:absence of cd59 expression on red cells

•

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

•

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

•

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

•

en:4-hydroxyphenylactic aciduria

•

en:reticulocyte count increased

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:1.61- and 1.76-mb microduplication of 3q29

•

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

•

en:structural abnormalities seen on chromosome analysis

•

en:severely impaired ciliary motility

•

en:severely decreased carnitine palmitoyltransferase ii (cpt ii) activity (less than 10% of normal) in multiple tissues

•

en:serum triglycerides increased

•

en:serum ferritin normal

•

en:serum cholesterol normal

•

en:routine liver function tests normal

•

en:increased urinary propionyl glycine

•

en:decreased von willebrand factor

•

en:increased tissue long-chain fatty acids

•

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

•

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

•

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

•

en:defect in oxidative phosphorylation

•

en:decreased udp-glcnac

•

en:decreased plasma free carnitine

•

en:decreased or normal plasma insulin

•

en:decreased or absent ciliary motility

•

en:decreased ldl cholesterol

•

en:decreased eno3 activity

•

en:decreased copper, iron, zinc

•

en:coarse metachromatic granules in white blood cells

•

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

•

en:chylomicronemia, refractory fasting

•

en:cd4/cd8 ratio decreased

•

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

•

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

•

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

•

en:accumulation of guanidinoacetate in brain

•

en:absent alkyl-dhap synthase activity

•

en:abnormal serum transferrin pattern (in some patients)

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:2-oxoadipic aciduria

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:di- and trihydroxycholestanoic acid accumulation

•

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

•

en:increased serum lactate (mild)

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:increased serum gamma-ggt (231950)

•

en:increased serum alanine

•

en:increased plasma proinsulin

•

en:increased erythrocyte sedimentation rate, episodic

•

en:increased csf pyruvic acid

•

en:increased creatine kinase (ck)

•

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

•

en:iiga and igg antigliadin antibodies (aga)

•

en:hyponatremic dehydration, rarely

•

en:hyponatremia

•

en:hypogammaglobulinemia, profound

•

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

•

en:hyperlysinemia

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:homocystinuria

•

en:heparin cofactor ii deficiency (disorder)

•

en:gm2-ganglioside accumulation

•

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

•

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

•

en:elevated plasma stigmasterol

•

en:elevated fibroblast free sialic acid

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:decreased or absent apolipoprotein a-i

•

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

•

en:loss of ciliary beat coordination

•

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

•

en:normal isoelectric focusing of apolipoprotein ciii

•

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

•

en:normal concentration of parathyroid hormone

•

en:myoglobinuria with extreme exertion

•

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

•

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

•

en:methemoglobin concentration 12 to 19%

•

en:marked hypobetalipoproteinemia

•

en:low or absent igm levels

•

en:liver enzymes abnormal

•

en:normal serum creatine kinase

•

en:lactate dehydrogenase increased

•

en:ketonemia

•

en:isovalericaciduria

•

en:iron deficiency

•

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

•

en:intracellular accumulation of unesterified cholesterol

•

en:increased urinary uracil

•

en:increased urinary sulfite

•

en:increased urinary sulfatides

•

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

•

en:normal pyridinoline excretion in urine

•

en:normal urinary cyclic amp response to pth administration

•

en:increased urinary citric acid cycle intermediates

•

en:serum transferrin glycosylation is normal

•

en:decreased activity of ppt1

•

en:urine odor, maple syrup

•

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

•

en:uric acid normal

•

en:t cells may be increased or decreased

•

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

•

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

•

en:slightly increased serum alkaline phosphatase may occur

•

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

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:serum testosterone level normal

•

en:normal urinary pterins

•

en:serum carnitine deficiency

•

en:serum calcium elevated

•

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

•

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

•

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

•

en:pms show deficient oxidation of debrisoquine

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:patient cells show increased chromosome breakage

•

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

•

en:parathyroid hormone (pth) absent to low

•

en:organic aciduria

•

en:increased urinary cortisol/cortisone ratio

•

en:normal serum phytanic and pristanic acid

•

en:increased triglycerides (less common)

•

en:decreased serum leptin

•

en:elevated resting serum lactate, increased with exercise

•

en:elevated propionate

•

en:elevated plasma desmosterol

•

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

•

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

•

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

•

en:dhea sulfotransferase below limit of detection

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:defective glcnac-pi synthesis

•

en:decreased ubiquinone-10

•

en:decreased serum haptoglobin

•

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

•

en:decreased serum carnitine in acute stage

•

en:decreased serum 18-ohb

•

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

•

en:decreased mucosal alkaline phosphatase

•

en:decreased levels of plasma factor viii

•

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

•

en:decreased fibroblast beta-hexosaminidase

•

en:decreased cobalamin in liver, kidney, and cultured fibroblasts

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:decreased activity of triosephosphate isomerase

•

en:elevated urinary ornithine, lysine, arginine

•

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

•

en:increased hepatic parenchymal cell stainable iron

•

en:increased bone-specific alkaline phosphatase

•

en:increased serum thrombopoietin may occur

•

en:galactosuria without galactosemia

•

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

•

en:increased serum ferritin

•

en:increased serum direct bilirubin

•

en:increased renal tubular phosphate reabsorption

•

en:increased nasal-potential difference (some)

•

en:increased fractional excretion of uric acid

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:increased csf taurine

•

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

•

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

•

en:high newborn serum levels of immunoreactive trypsinogen

•

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

•

en:glycogen accumulation in both liver and muscle

•

en:hemoglobin decreased

•

en:high deoxypyridinoline/creatinine (in some patients)

•

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

•

en:hyperlipidemia

•

en:hypobetalipoproteinemias

•

en:hypokalemia during attacks

•

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

•

en:increased soluble il2 receptor

•

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

•

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

•

en:defect in double-stranded dna repair

•

en:decreased tissue and serum alkaline phosphatase

•

en:defect in chylomicron secretion

•

en:foam cells in bone marrow and renal glomeruli

•

en:decreased testosterone level

•

en:decreased telomerase activity

•

en:decreased serum complement factor h

•

en:decreased serum androgens

•

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

•

en:decreased plasma esterified cholesterol

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:ferritin decreased

•

en:echocardiogram abnormal

•

en:elevated 17-hydroxyprogesterone

•

en:elevated cerebrospinal fluid (csf) protein

•

en:elevated erythrocyte adenosine deaminase

•

en:elevated inflammatory markers

•

en:elevated levels of vitamin b12

•

en:elevated plasma insulin

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:factor viii deficiency

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:decreased plasma apolipoprotein c-ii

•

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

•

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

•

en:anti-factor viii positive

•

en:glomerular filtration rate decreased

•

en:sialylation defects

•

en:smooth muscle antibodies positive

•

en:thymic hormone decreased

•

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

•

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

•

en:uremia

•

en:urinary excretion of mucopolysaccharides

•

en:very low igm

•

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

•

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

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:decreased fibroblast alpha-mannosidase

•

en:cd4+/cd8+ ratio often reversed

•

en:cellular arrest at g2 of the cell cycle

•

en:cerebrospinal fluid lymphocytosis

•

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

•

en:creatine kinase levels may normalize with disease progression

•

en:csf pleocytosis, particularly of lymphocytes

•

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

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:decreased activity of thiopurine s-methyltransferase

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:generalized amyloid deposition

•

en:reduced iga

•

en:glycogen storage disease type vi

•

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

•

en:low or absent prolactin (pl)

•

en:low or normal serum calcium

•

en:low or undetectable insulin

•

en:low serum alkaline phosphatase in heterozygotes

•

en:mildly elevated acth

•

en:mitochondrial complex i deficiency in muscle

•

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

•

en:nephrotic syndrome

•

en:normal-elevated plasma testosterone (male range)

•

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

•

en:normal or mildly reduced sphingomyelinase activity

•

en:normal serum folate levels

•

en:low leukocyte alkaline phosphatase activity

•

en:normal to mildly increased mucopolysacchariduria

•

en:partial deficiency of factor xii(c)

•

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

•

en:pcd shows separate and rod-shaped x chromosomes without discernible centromeres

•

en:plasma protein c deficiency

•

en:premature separation of centromeric heterochromatin

•

en:proper antibody response to protein vaccinations

•

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

•

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

•

en:shortened telomeres (in 1 of 2 patients)

•

en:telomere shortening

•

en:upregulation of alpha-interferon-stimulated genes

•

en:low or absent growth hormone (gh)

•

en:leukotriene c4 synthetase deficiency

•

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

•

en:increased ck-mb

•

en:hawkinsinuria

•

en:hemophilia b

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:high ft3/ft4 ratio

•

en:high urinary copper

•

en:hyperkalemia during attacks

•

en:hypogammaglobulinemia

•

en:hypoglycosylation of plasma glycoproteins

•

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

•

en:inappropriately normal or increased plasma hepcidin

•

en:increased ammonia with exercise

•

en:increased creatine kinase, mild to moderate

•

en:intermediate level of cellular sensitivity to uv light

•

en:increased fas ligand

•

en:increased free erythrocyte protoporphyrin

•

en:increased il-6

•

en:increased plasma pristanic acid

•

en:increased plasma renin activity

•

en:increased serum c26-bile-acid intermediates

•

en:increased serum methionine

•

en:increased tissue long-chain acylcarnitines

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:increased urinary potassium

•

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

•

en:shortened metaphase

◀

Génériques

[F] [H]

›

en:marked

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6881196 • caches: c1=16 c2=2006 c3=2

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