Diko : en:absence of emerin by immunohistochemistry on muscle biopsy

en:absence of emerin by immunohistochemistry on muscle biopsy

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1839656

Associations d'idées

[F]

›

1000

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

•

en:phosphaturia (in some)

•

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

•

en:absent 7-dehydrocholesterol

•

en:decreased activity of dihydrofolate reductase

•

en:hawkinsinuria

•

en:lower total cholesterol

•

en:low or undetectable insulin

•

en:increased urinary 3-oh-butyric acid

•

en:decreased serum 25-hydroxyvitamin d

•

en:increased serum pyruvate

•

en:deficient fibroblast aicar-tf activity

•

en:multiple autoantibodies

•

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

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased il1b increased soluble il2r

•

en:increased csf protein

•

en:iodine depletion

•

en:androgens increased

•

en:high sweat electrolyte

•

en:hypermagnesemia

•

en:increased 18-hydroxycortisol

•

en:increased tissue levels of free fatty acids

•

en:increased urinary 2-hydroxybutyrate

•

en:increased urinary dihydropyrimidines

•

en:increased urinary dopamine

•

en:structural abnormalities seen on chromosome analysis

•

en:ketonemia

•

en:elevated liver enzymes

•

en:ketonuria, acute

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:galactosuria

•

en:no dicarboxylic aciduria

•

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

•

en:amylo-1,6-glucosidase deficiency

•

en:normal lysosomal hydrolases

•

en:low serum cortisol

•

en:cytoplasmic lamellar concentric inclusions

•

en:decreased activity of ppt1

•

en:decreased asparagine levels (in some patients)

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:decreased nasal nitric oxide

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:glucosuria, mild, intermittent

•

en:hypoglycemia, fasting

•

en:increased 11-deoxycorticosterone

•

en:increased urinary 2-butanone

•

en:no chromosome breakage

•

en:chromosomal mosaicism in cultured cells

•

en:decreased fibroblast arylsulfatase a

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:electrocardiogram abnormal

•

en:increased sodium-potassium pump activity

•

en:transferrin saturation increased

•

en:increased urinary 2-methylbutyrylglycine

•

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

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:elevated afp (endodermal sinus tumor)

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:increased long-chain acylcarnitine

•

en:increased plasma levels of bile acid intermediates

•

en:severely impaired ciliary motility

•

en:decreased or normal plasma insulin

•

en:immotile cilia

•

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

•

en:increased serum alkaline phosphatase (in some patients)

•

en:mildly elevated acth

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

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

•

en:phosphorylase kinase normal in muscle

•

en:normal complex ii activity

•

en:normal b12

•

en:elevated mchc

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:glutaric aciduria

•

en:elevated plasma desmosterol

•

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

•

en:tay-sachs disease

•

en:prolidase deficiency

•

en:mucopolysaccharidosis type iiid

•

en:unresponsive to acth stimulation

•

en:unprocessed 3-oxoacyl coa thiolase

•

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

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:pipecolic acid accumulation.

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

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

•

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

•

en:fumarase deficiency

•

en:excessive iodide trapping

•

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

•

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

•

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

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:absent anti-insulin receptor antibodies

•

en:aldosterone level increased above normal

•

en:decreased serum acth

•

en:elevated sepiapterin in csf

•

en:increased alpha-fetoprotein (1 patient)

•

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

•

en:normal number of t and b lymphocytes

•

en:normal to mildly increased serum creatine kinase

•

en:oestradiol decreased

•

en:decreased cortisol-binding globulin

•

en:pyruvic acidemia

•

en:dehydration

•

en:serum and csf lactate may be increased

•

en:increased ferritin

•

en:fibrinogen decreased

•

en:elevated plasma methionine (methioninemia)

•

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

•

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

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:decreased fibrinogen (in some patients)

•

en:decreased activity of mitochondrial respiratory complexes

•

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

•

en:thyroid dyshormonogenesis 4

•

en:oligospermia or azoospermia

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:fasting hyperinsulinemia

•

en:increased phytanic acid in body tissues and fluids

•

en:increased serum lactate (in some patients)

•

en:increased urinary potassium

•

en:increased very-long chain fatty acids

•

en:myoglobinuria (reported in 1 patient)

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:hypertriglyceridemia

•

en:impaired creatine uptake in fibroblasts

•

en:karyomegaly may be found in other visceral organs

•

en:lack of ciliary motility

•

en:lactic acidosis

•

en:serum gastrin increased

•

en:some fragmented or disrupted golgi

•

en:cholesterol low

•

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

•

en:raised tsh level

•

en:increased urine porphyrins at times

•

en:increased renal tubular phosphate reabsorption

•

en:bilirubin may or may not be increased

•

en:hyperuricuria

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

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

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:coarse metachromatic granules in white blood cells

•

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

•

en:serum iron raised

•

en:decreased methylcobalamin (mecbl)

•

en:low acth level

•

en:elevated plasma alloisoleucine

•

en:vacuolated lymphocytes

•

en:prolonged partial thromboplastin time (ptt)

•

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

•

en:mildly elevated creatine phosphokinase

•

en:increased urinary and serum glycine

•

en:increased serum glycerol

•

en:hyperglycinemia (1 patient)

•

en:epstein-barr viraemia

•

en:elevated sweat chloride (some)

•

en:increased urinary orotic acid (in some patients)

•

en:increased soluble il2 receptor

•

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

•

en:increased serum triiodothyronine (t3)

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased urinary oligosaccharides

•

en:lactate dehydrogenase increased

•

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

•

en:infantile hypophosphatasia

•

en:intermittent increase of urinary ethylmalonic acid

•

en:keratan sulfaturia in some patients

•

en:lack of excessive parenchymal iron storage

•

en:increased serum lactate (patient a)

•

en:lactate pyruvate ratio normal

•

en:increased serum prostaglandin e2

•

en:increased csf histidine

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:hypobetalipoproteinemias

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hypoxemia

•

en:igm deficiency

•

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

•

en:increased 18-oxocortisol

•

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

•

en:increased serum creatine kinase during episodes

•

en:increased ck-mb

•

en:low copper and ceruloplasmin

•

en:increased di- and asialo-transferrin

•

en:increased il6, episodic

•

en:increased plasma long-chain acylcarnitines

•

en:increased plasma pristanic acid

•

en:loss of ciliary beat coordination

•

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

•

en:low or absent prolactin (pl)

•

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

•

en:phytanic acid increased

•

en:plasma catecholamines decreased

•

en:polycythemia

•

en:positive urine dnph screening test

•

en:predominance of the d-stereoisomer

•

en:prolonged activated partial prothrombin time (appt)

•

en:rhabdomyolysis in response to alcohol

•

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

•

en:routine liver function tests normal

•

en:serum c-peptide and glucagon levels measurable

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:shortened telomeres (classic feature, nola3 patient)

•

en:thrombocytopenia

•

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

•

en:phospholipid antibody positive

•

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

•

en:low plasma hdl

•

en:normal constitutional karyotype

•

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

•

en:methylmalonic aciduria, mild

•

en:microscopic hematuria

•

en:hyperprolinemia (5-10 times normal)

•

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

•

en:nadh-cytochrome b(5) reductase deficiency

•

en:normal isoelectric focusing of serum transferrin

•

en:partial deficiency of factor xi (less common)

•

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

•

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

•

en:normal red cell counts

•

en:normal to elevated total plasma carnitine

•

en:normal transferrin saturation

•

en:no ketosis

•

en:partial deficiency of factor xiii(c)

•

en:hyperuricemia

•

en:hyperammonemia

•

en:hyperglycinemia

•

en:decreased neopterin and biopterin in urine

•

en:decreased b cells

•

en:decreased csf hypocretin

•

en:decreased fumarate hydratase activity

•

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

•

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

•

en:decreased methylmalonyl-coa mutase activity

•

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

•

en:decreased axonal flare response after intradermal histamine injection

•

en:decreased or absent glycogen branching enzyme activity

•

en:decreased or absent serum citrulline

•

en:decreased peroxisomal fatty acid beta-oxidation

•

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

•

en:decreased serum factor h (atypical hus)

•

en:decreased serum ferritin

•

en:decreased beta-thromboglobulin

•

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

•

en:decreased serum thyroxine (t4)

•

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

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

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

•

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

•

en:abnormal acylcarnitine profiles

•

en:abnormal cardiolipin subspecies composition

•

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

•

en:abnormal liver enzymes during illness

•

en:cutaneous anergy

•

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

•

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

•

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

•

en:calciuria

•

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

•

en:creatine phosphokinase increased

•

en:decreased serum iron (in some patients)

•

en:decreased serum vitamin a

•

en:hypercholesterolemia

•

en:generalized amyloid deposition

•

en:elevated sweat chloride

•

en:excessive urinary 5-oxo-l-proline

•

en:fasting ketosis

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:galactosyltransferase i deficiency in fibroblasts

•

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

•

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

•

en:elevated serum bile acids

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:high plasma citrulline (100-300 micromolar)

•

en:homocysteinemia

•

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

•

en:hyperbilirubinemia in those with liver failure

•

en:hypercalciuria

•

en:elevated serum levels of adenosine

•

en:elevated resting serum lactate, increased with exercise

•

en:decreased testosterone level

•

en:dilated rough endoplasmic reticulum (rer)

•

en:decreased tetrasialo-transferrin

•

en:decreased ubiquinone-10

•

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

•

en:defect in chylomicron secretion

•

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

•

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

•

en:direct hyperbilirubinemia

•

en:elevated plasma ornithine (~10-fold)

•

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

•

en:echocardiogram abnormal

•

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

•

en:elevated hcg (choriocarcinoma)

•

en:elevated lathosterol

•

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

•

en:transferase deficiency galactosemia

•

en:aprt deficiency measured in erythrocyte lysate

•

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

•

en:increased serum transaminases (in 1 of 3 patients)

•

en:increased serum arylsulfatase a (10-20x)

•

en:increased serum beta-hexosaminidase

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased serum gm-csf

•

en:increased serum lipoproteins

•

en:increased serum thyrotropin

•

en:increased serum unconjugated bilirubin

•

en:increased plasma progastrin

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

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

•

en:ketoacidosis

•

en:leukocytosis

•

en:low free carnitine

•

en:increased prv-1 (162860) mrna

•

en:increased lactate in spinal fluid

•

en:low plasma arginine

•

en:hypokalemia during periodic paralysis (most patients)

•

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

•

en:hyperprolinemia type 1

•

en:hyperthreoninemia

•

en:hyperuricosuria

•

en:hypocalcemia (64% of adults)

•

en:hypoglycosylated serum transferrin

•

en:igg, decreased

•

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

•

en:inappropriately low urine osmolality

•

en:increased 18-ohb to aldosterone ratio

•

en:increased cholesterol

•

en:increased csf interferon

•

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

•

en:increased erythrocyte sedimentation rate, episodic

•

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

•

en:low plasma tryptophan (inflammatory type b)

•

en:hyperammonemia, episodic

•

en:serum mitochondrial autoantibodies

•

en:plasma ammonia not elevated

•

en:positive antinuclear antibody test

•

en:reduced iga

•

en:rheumatoid factor negative

•

en:serum copper decreased

•

en:undetectable urinary hypoxanthine

•

en:serum prolactin increased

•

en:paraproteinemia

•

en:transient hyperlipidemia

•

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

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

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

•

en:urine uric acid decreased

•

en:very low density lipoprotein increased

•

en:parathyroid hormone normal

•

en:pancreatic trypsinogen deficiency

•

en:low serum alpha-fetoprotein (recessive)

•

en:normal lactate (hcs)

•

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

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:myelin basic protein measurement, spinal fluid

•

en:nephrotic syndrome

•

en:normal activity of von willebrand factor-cleaving protease

•

en:normal calcium (female)

•

en:normal or increased serum phosphate

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:normal or mildly reduced sphingomyelinase activity

•

en:normal pyridinoline excretion in urine

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:normal to increased plasma glycine

•

en:normal to mildly increased mucopolysacchariduria

•

en:normal urinary cyclic amp response to pth administration

•

en:no c8 antigen detected

•

en:hyperglycemias, postprandial

•

en:serum lactate is usually normal

•

en:homocitrullinuria

•

en:decreased circulating cortisol level

•

en:cells show increased sensitivity to ionizing radiation

•

en:cilia show inner and outer dynein arm defects

•

en:creatine kinase normal between episodes

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

en:decreased activity of complement factor d

•

en:decreased cerebrospinal fluid folic acid

•

en:decreased clot retraction

•

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

•

en:decreased copper, iron, zinc

•

en:decreased csf pyridoxal 5-prime-phosphate (plp)

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased fibroblast iduronate sulfatase

•

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

•

en:cd4+/cd8+ ratio is reversed

•

en:ballooned neurons

•

en:decreased hepatic gaba transaminase activity

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

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

•

en:heteroplasmic partial duplication of mtdna

•

en:urinary excretion of sialylated oligosaccharides

•

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

•

en:very low igm

•

en:abnormal phospholipid profile

•

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

•

en:antithrombin iii deficiency

•

en:absence of outer dynein arms

•

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

•

en:absent tyrosinase activity

•

en:aminoaciduria (in some patients)

•

en:anti-ds dna antibody

•

en:antineutrophil cytoplasmic antibody

•

en:decreased glutamine in bodily fluids

•

en:abnormal lipid profile

•

en:decreased insulin receptor binding

•

en:elevated plasma stigmasterol

•

en:decreased levels of certain coagulation factors

•

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

•

en:glycosuria (less common)

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:gamma-glutamylcysteine deficiency

•

en:folic acid deficiency

•

en:foam cells in visceral organs and cns

•

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

•

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

•

en:fasting chylomicronemia

•

en:elevated total iron-binding capacity

•

en:elevated serum protein

•

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

•

en:elevated serum alpha-fetoprotein

•

en:glucose-6-phosphate deficiency

•

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

•

en:decreased xanthine dehydrogenase activity

•

en:decreased metabolism of thiopurine drugs

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

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

•

en:decreased secretion of igf1 in response to gh administration

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased uros activity (1 patient)

•

en:granular osmiophilic deposits (grod) in cells

•

en:deficiency of laminin in basement membranes

•

en:elevated 8(9)-cholestenol

•

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

•

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

•

en:disorganized growth plate cartilage

•

en:elevated 3-methylcitric acid

•

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

•

en:low or absent thyrotropin (tsh)

•

en:low or normal serum igm

•

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

•

en:low serum alkaline phosphatase in heterozygotes

•

en:mild hypertriglyceridemia

•

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

•

en:low-to-normal csf lactate

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:myoglobinuria

•

en:normal or increased serum phytanic acid

•

en:normal parathyroid hormone (female)

•

en:normal prolyl 4-hydroxylase activity

•

en:low fasting glucose (in some patients)

•

en:intracellular accumulation of unesterified cholesterol

•

en:increased pristanic acid

•

en:iron low

•

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

•

en:increased urinary phospholipids

•

en:increased urinary hypoxanthine

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:increased serum parathyroid hormone (pth)

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased serum growth hormone levels

•

en:increased serum ferritin

•

en:increased serum arylsulfatase a.

•

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

•

en:normal serum 25-hydroxyvitamin d3

•

en:increased pyruvate in serum and csf

•

en:increased serum lactate hydrogenase

•

en:serum complement decreased

•

en:normal serum erythropoietin (epo, 133170)

•

en:serum prolactin decreased

•

en:2-aminoadipic aciduria

•

en:increased plasma and urinary pipecolic acid

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:very low iga

•

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

•

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

•

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

•

en:tsh decreased

•

en:translocation between 18q21 and 14q32

•

en:subtelomeric deletion of chromosome 16p

•

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

•

en:skewed x-inactivation in females

•

en:serum transaminase increased

•

en:serum ferritin normal

•

en:normal serum liver enzymes

•

en:serum cortisol elevated

•

en:serum ammonia increased

•

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

•

en:pseudohypertriglyceridemia in adult form

•

en:presence of cytochrome b(-245)

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:platelet aggregation decreased

•

en:plasmalogen deficiency

•

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

•

en:peroxisome deficiency

•

en:patient cells have increased levels of lmnb1 mrna and protein

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:no hyperphenylalaninemia

•

en:normal to prolonged bleeding time

•

en:increased plasma phytanic acid

•

en:dyskinetic ciliary motility

•

en:increased lactate: pyruvate ratio (group b)

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:decreased thrombospondin

•

en:decreased serum androgens

•

en:decreased plasma glycine

•

en:decreased phk activity in liver

•

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

•

en:decreased or absent apolipoprotein a-i

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

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

•

en:decreased levels of the e2 subunit protein

•

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

•

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

•

en:decreased circulating renin level

•

en:decreased circulating aldosterone level

•

en:decreased activity of triosephosphate isomerase

•

en:elevated 8-dehydrocholesterol

•

en:decreased activity of thiopurine s-methyltransferase

•

en:continuous urinary iodine loss

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:cilia may also be static, with slow activity

•

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

•

en:chondroitin 6-sulfate excretion in urine

•

en:cd4+/cd8+ ratio often reversed

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:blood pyruvic acid increased

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:abnormal serum liver enzyme levels

•

en:abnormal n-glycosylation of transferrin

•

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

•

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

•

en:elevated antinuclear antibody (ana) (speckled pattern)

•

en:increased hepatic parenchymal cell stainable iron

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:increased csf transferrin despite normal serum transferrin levels

•

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

•

en:increased creatine kinase, mild to moderate

•

en:inappropriately normal or increased plasma hepcidin

•

en:inappropriately increased urine osmolality

•

en:igg, elevated

•

en:hypoproteinemia due to hypercatabolism

•

en:hypokalemia occurs during paralytic attacks

•

en:hypoglycosylation of plasma glycoproteins

•

en:hypocalciuria or normocalciuria

•

en:hypertriglyceridemia, transient

•

en:hyperkalemia during attacks

•

en:hyperammonemia after protein intake

•

en:homocystinuria (in some patients)

•

en:elevated plasma insulin

•

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

•

en:hereditary xanthinuria

•

en:green serum

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:factor viii deficiency

•

en:exercise-induced myoglobinuria in adults

•

en:euvolemia

•

en:elevated white blood cell cystine

•

en:elevated urinary phosphoethanolamine

•

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

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:elevated urinary 3-methylglutaconate

•

en:elevated serum iron

•

en:3-methylglutaric aciduria

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:abnormal liver enzymes (1 patient)

•

en:incresased urinary pyruvate

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:low to very low hdl cholesterol

•

en:low to low-normal magnesium

•

en:low serum uric acid

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low or low-normal serum t4

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low csf creatine

•

en:low cholesterol esterification rates

•

en:little to absent aspartylglucosaminuria activity

•

en:lactate high

•

en:ketonuria (1 patient)

•

en:intermittent severe hypoglycemia (in some patients)

•

en:increased urine vanillactic acid (vla)

•

en:mitochondrial complex i deficiency in muscle

•

en:increased urinary urate

•

en:increased urinary methylcitrate

•

en:increased urinary malic acid

•

en:increased urinary excretion of camp

•

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

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased tissue levels of triglycerides

•

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

•

en:increased serum pyruvate in acute stage

•

en:increased serum lactate during metabolic crisis

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum lactate (mild)

•

en:increased serum citrulline (group b)

•

en:mild to moderate hyperammonemia

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:abnormal oral glucose tolerance

•

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

•

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

•

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

•

en:thyroid dyshormonogenesis 5

•

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

•

en:t1 transport protein (glucose-6-phosphate translocase) defect

•

en:shortened telomeres (in 1 of 2 patients)

•

en:serum triglycerides normal

•

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

•

en:reduced igg levels, particularly igg2 subclass

•

en:reduced electroretinogram (scotopic > photopic) becoming extinguished in older patients

•

en:pt normal

•

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

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:plasma aldosterone increased

•

en:partial deficiency of factor xii(c)

•

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

•

en:no ketonuria

•

en:normal urinary pterins

•

en:normal serum transferrin profiles

•

en:normal serum phytanic and pristanic acid

•

en:normal renin level

•

en:normal lysyl hydroxylase activity

•

en:normal lysl hydroxylase activity

•

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

•

en:normal-elevated plasma testosterone (male range)

•

en:myoglobinuria with extreme exertion

•

en:increased serum acylcarnitine during febrile crisis

•

en:uric acid normal

•

en:increased ige level

•

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

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

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

•

en:deficiency of fat-soluble vitamins

•

en:decreased thyroxine level

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:decreased nk cells (in some patients)

•

en:decreased neopterin and biopterin in csf

•

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

•

en:decreased lipid-linked oligosaccharides (llo)

•

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

•

en:decreased decr enzyme activity

•

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

•

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

•

en:elevated alkaline phosphatase

•

en:decreased activities of multiple sulfatases

•

en:cystathioninuria (lab finding)

•

en:cystathioninemia

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:coombs positive hemolytic anemia

•

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

•

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

•

en:antiribonuclear protein positive

•

en:aminoaciduria

•

en:alkaline phosphatase serum increased

•

en:acute-phase reactants during fever

•

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

•

en:abnormal secretin test

•

en:elevated 2-ketoglutarate (urine)

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:elevated biopterin in csf

•

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

•

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

•

en:increased biliverdin in bodily fluids

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:increased 11-deoxycortisol

•

en:incomplete n-glycosylation of cellular proteins

•

en:iiga and igg antigliadin antibodies (aga)

•

en:hypouricemia

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:hypoglycemia

•

en:hypogammaglobulinemia, profound

•

en:hyperprolinemia (10-15 times normal)

•

en:hypermagnesiuria

•

en:hyperkalemia

•

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

•

en:homocysteinemia (in some patients)

•

en:generalized aminoaciduria

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:elevated il6

•

en:elevated serum iron and iron binding capacity

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:elevated urinary 2-ethylhydracrylate

•

en:elevated long chain fatty acids

•

en:globulin gamma serum plasma increased result

•

en:green urine

•

en:heparin cofactor ii deficiency (disorder)

•

en:hereditary fructose intolerance

•

en:high m-component

•

en:glutathione deficiency

•

en:increased serum and csf lactate

•

en:increased or normal serum growth hormone (gh, 139250)

•

en:increased plasma creatine

•

en:increased plasma homogentisic acid (hga)

•

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

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased serum and urinary lactate

•

en:increased serum thrombopoietin may occur

•

en:increased serum thyroid-stimulating hormone (tsh)

•

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

•

en:increased disialo- and asialotransferrin

•

en:increased nasal-potential difference (some)

•

en:hypoketotic hypoglycemia

•

en:increased csf taurine

•

en:increased c10:2-carnitine

•

en:increased bone-specific alkaline phosphatase

•

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

•

en:immotile or weakly motile cilia

•

en:hypomethylation of satellite repeats on chromosome 1, 9, and 16

•

en:hypoglycorrhachia (low glucose in csf)

•

en:hypogammaglobulinemia

•

en:hypernatriuria

•

en:hypermethioninemia, progressive

•

en:hyperlipoproteinemia type iib

•

en:hyperglycinuria (disorder)

•

en:homocystinemia

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

en:high urinary copper

•

en:platelet function test normal

•

en:increased urinary lactate

•

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

•

en:hereditary factor x deficiency

•

en:pentagastrin stimulation test

•

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

•

en:p5c levels increased in urine

•

en:orotic aciduria

•

en:organic aciduria, mild (in some patients)

•

en:normal urinary orotic acid

•

en:normal serum complement levels

•

en:normal serum cobalamin

•

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

•

en:normal plasma and tissue carnitine

•

en:normal maltase, isomaltase, and sucrase activity

•

en:normal igm levels

•

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

•

en:increased urinary n-acetylated amino acids

•

en:normal cd8+/cd4+ ratio

•

en:normal aldosterone

•

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

•

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

•

en:mild elevation of transaminases

•

en:mildly elevated blood ammonia

•

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

•

en:low plasma citrulline

•

en:low-normal igm

•

en:kypokalemia

•

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

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:increased urinary sulfatides

•

en:high newborn serum levels of immunoreactive trypsinogen

•

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

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:azotemia

•

en:decreased plasma triglycerides

•

en:decreased plasma and urinary ornithine

•

en:decreased or normal serum factor i

•

en:decreased levels of cpt2 protein

•

en:decreased factor xi

•

en:decreased cholesterol (less common)

•

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

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:decreased activity of 2-oxoacid dehydrogenases

•

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

•

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

•

en:ceruloplasmin decreased

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:axonemes show normal structure

•

en:decreased serum cholesterol (in some)

•

en:atrial abnormalities on electrocardiogram

•

en:anti-ssb positive

•

en:anomalies of cholesterol levels

•

en:amyloidosis, (iowa type 107680.0010, nonneuropathic 107680.0016)

•

en:aminoaciduria (1 patient)

•

en:aminoaciduria, intermittent

•

en:alanine aminotransferase increased

•

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

•

en:absent igg2 subclass

•

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

•

en:abnormal igfr1 function

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

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

•

en:decreased serum luteinizing hormone (lh)

•

en:hemoglobin decreased

•

en:elevated plasma follicle stimulating hormone (fsh)

•

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

•

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

•

en:glyoxalase deficiency

•

en:glycosuria

•

en:glycogen accumulation in both liver and muscle

•

en:gaucher disease, type 1

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:folate-dependent fragile site at xq28

•

en:farber lipogranulomatosis

•

en:elevated serum transaminases during infections

•

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

•

en:elevated propionate

•

en:elevated pregnenolone

•

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

•

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

•

en:elevated liver function tests

•

en:elevated free carnitine

•

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

•

en:elevated alpha-ketoglutarate (in most patients)

•

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

•

en:elevated 3-hydroxypropionic acid

•

en:elevated 17-hydroxyprogesterone

•

en:dhea sulfotransferase below limit of detection

•

en:dermatan and heparan sulfate excretion in urine

•

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

•

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

•

en:defect in double-stranded dna repair

•

en:defective dna repair

•

en:presence of pc mrna

•

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

•

en:reduced erythrocyte adenosine deaminase activity

•

en:increased urinary glycerol

•

en:mildly elevated urinary mevalonic acid

•

en:microdeletion 22q11.2

•

en:metachromasia of white blood cells and fibroblasts

•

en:median mean platelet volume 13fl

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:low to normal serum calcium

•

en:serum calcitonin, increased

•

en:low apolipoprotein

•

en:low 25-oh-vitamin d level

•

en:liver transaminases normal to slightly increased

•

en:increased urinary organic acids (in some patients)

•

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

•

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

•

en:normal collagen type i studies

•

en:increased urinary creatine

•

en:increased urinary carnitine esters

•

en:increased uric acid with exercise

•

en:increased serum serotonin in 25%

•

en:increased serum lactate in acute stage

•

en:increased serum lactate, particularly after exercise

•

en:increased serum creatine kinase in acute stage

•

en:increased serum aryl-sulfatase a (10-20x)

•

en:increased serum and csf glycine

•

en:increased plasma phospholipids

•

en:increased neopterin in urine and csf

•

en:increased intracellular fmrp mrna

•

en:increased histidine in blood, urine, and csf

•

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

•

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

•

en:increased csf threonine

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:x-linked emery-dreifuss muscular dystrophy

•

en:xanthine nephrolithiasis

•

en:vitamin k deficiency

•

en:variably increased serum creatine kinase

•

en:variable hyperlipidemia

•

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

•

en:urine odor, maple syrup

•

en:urine cortisol, increased

•

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

•

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

•

en:thyroid dyshormonogenesis 3

•

en:serum phosphate concentration below normal

•

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

•

en:raised c-reactive protein

•

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

•

en:primary immunoglobulin-related amyloidosis (al)

•

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

•

en:platelet factor 4 decreased

•

en:pink urine

•

en:phosphaturia

•

en:persistent ebv viremia

•

en:occasional hypomagnesemia

•

en:normal tyrosinase

•

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

•

en:normal serum creatine kinase

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

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

•

en:normal plasma phytanic acid

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:low level of c4 and c2

•

en:immunoglobulin antibodies present

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

en:decreased or absent serum ceruloplasmin

•

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 nasal nitric oxide (in some patients)

•

en:decreased ldl cholesterol

•

en:decreased cpt1 activity

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:bone marrow hypoplasia (in some patients)

•

en:blood glucose normal

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:anti-iga antibodies commonly present

•

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

•

en:accumulation of guanidinoacetate in brain

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

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

•

en:abnormal urinary organic acids

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:3-methylglutaconic aciduria

•

en:vitamin b12 deficiency (in some patients)

•

en:urinary excretion of mucopolysaccharides

•

en:hyposialylation of o-linked serum glycans

•

en:thyroid peroxidase defect

•

en:systemic amyloidosis may occur

•

en:sweat test normal

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:serum creatinine raised

•

en:serum creatine kinase may be normal or elevated

•

en:decreased phytanic acid oxidase activity

•

en:transaminitis

•

en:decreased plasma lpl levels (in some patients)

•

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

•

en:decreased plasminogen antigen

•

en:hyponatremia

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:hypocholesterolemia

•

en:hyperoxaluria

•

en:hyperinsulinemia

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:high plasma asparagine

•

en:high ebv viral load

•

en:hepatic lipase deficiency (disorder)

•

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

•

en:frequent deletions of chromosome 9 in melanoma

•

en:ethylmalonic aciduria

•

en:hypocalciuria

•

en:elevated serum parathyroid hormone (pth)

•

en:deficiency or absence of p22-phox protein

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:decreased serum b12 levels

•

en:decreased udp-glcnac

•

en:defective bile acid metabolism

•

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

•

en:duplication or deletion at 11p15.5

•

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

•

en:elevated prothrombin time

•

en:elevated 1,25(oh)2 d3

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:elevated androstenedione and testosterone

•

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

•

en:low-to-normal platelet count

•

en:mitochondrial malic enzyme reduced

•

en:molybdenum cofactor deficiency

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:microsomal hmg-coa reductase decreased

•

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

•

en:march myoglobinuria

•

en:low serum calcium

•

en:low or absent iga levels

•

en:mildly increased serum lactate

•

en:increased urinary 2-oxoglutaric acid

•

en:low-molecular-weight proteinuria

•

en:long-chain ketonuria

•

en:increased urinary succinic acid

•

en:increased urinary propionyl glycine

•

en:increased urinary free sialic acid (n-acetylneuraminic acid, 20-200x normal)

•

en:increased urinary dicarboxylic acid, transient

•

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

•

en:increased transferrin saturation (>60%)

•

en:increased serum triglycerides (in some patients)

•

en:increased serum manganese

•

en:normal csf neurotransmitters

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en:neutropenia

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en:serum creatine kinase may be normal

•

en:normal free urinary cortisol

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en:serum aldosterone elevated

•

en:very low leptin level

•

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

•

en:variable respiratory chain enzyme deficiency

•

en:transient neonatal hypocalcemia (2p21del)

•

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

•

en:t-cell deficit

•

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

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

•

en:serum folate low

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

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en:normal isoelectric focusing of apolipoprotein ciii

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

•

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

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

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en:platelet antibody positive

•

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

•

en:pcs shows separate and splayed chromatids with discernible centromeres

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en:no mucopolysacchariduria

•

en:normal serum biotin concentration

•

en:normal serum and mucosal iga

•

en:normal male karyotype (46,xy)

•

en:increased serum ferritin (in some patients)

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Génériques

[F] [H]

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en:absence

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en:absence of

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845205 • caches: c1=38 c2=2185 c3=137

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