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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C1867973

Associations d'idées

[F]

›

1000

en:serum testosterone level normal

•

en:serum iron raised

•

en:serum bilirubin increased

•

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

•

en:decreased complement factor d

•

en:decreased plasminogen antigen

•

en:elevated 8(9)-cholestenol

•

en:elevated csf glycine

•

en:elevated dihydrobiopterin in csf

•

en:elevated gamma-glutamyltransferase

•

en:high serum osmolality

•

en:hyperlipidemia

•

en:hereditary xanthinuria

•

en:urinary prostaglandin e

•

en:increased free cyanocobalamin in fibroblasts

•

en:paraproteinemia

•

en:normal serum folate levels

•

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

•

en:increased urinary 3-methylglutaconic acid

•

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

•

en:generalized aminoaciduria

•

en:factor vii deficiency

•

en:decreased serum carnitine in acute stage

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:indirect bilirubin increased

•

en:blood glucose normal

•

en:decreased eno3 activity

•

en:decreased respiratory chain complex iii activity in multiple tissues

•

en:decreased serum c3 (atypical hus)

•

en:glutaric aciduria

•

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

•

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

•

en:elevated plasma acth

•

en:normal plasma renin

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:decreased cytochrome c oxidase activity in skin fibroblasts, liver, and skeletal muscle

•

en:variable hyperlipidemia

•

en:decreased mucosal alkaline phosphatase

•

en:increased 18-ohb to aldosterone ratio

•

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

•

en:low 25-oh-vitamin d level

•

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

•

en:mildly elevated transaminases

•

en:pipecolic acidemia

•

en:normal ciliary structure and function

•

en:di- and trihydroxycholestanoic acid accumulation

•

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

•

en:ketonuria, acute

•

en:impaired n-glycosylation

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:pyruvic acidemia

•

en:reduced ferrochelatase activity

•

en:serum complement decreased

•

en:decreased intracellular fmr protein

•

en:decreased serum androgens

•

en:decreased thrombospondin

•

en:deficiency of fructokinase

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:increased plasma proinsulin

•

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

•

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

•

en:transcobalamin ii deficiency

•

en:4-hydroxyphenylactic aciduria

•

en:hypoglycorrhachia (low glucose in csf)

•

en:increased serum and urinary lactate

•

en:increased plasma free cholesterol

•

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

•

en:intracellular accumulation of unesterified cholesterol

•

en:elevated sweat chloride (some)

•

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

•

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

•

en:absent alkyl-dhap synthase activity

•

en:abnormal liver function test

•

en:increased tissue long-chain acylcarnitines

•

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

•

en:nadh-cytochrome b(5) reductase deficiency

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:parathyroid hormone level increased

•

en:normal csf 5-hiaa

•

en:increased urinary taurine

•

en:immunoglobulin antibodies present

•

en:markedly increased serum creatine kinase

•

en:decreased or low-normal serum parathyroid hormone (pth)

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

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

•

en:serum osmolality decreased

•

en:presence of vacuoles on muscle biopsy

•

en:decreased nasal nitric oxide

•

en:increased csf interferon alpha

•

en:prolonged activated partial prothrombin time (appt)

•

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

•

en:median mean platelet volume (mpv) 12.5fl

•

en:decreased insulin receptor binding

•

en:elevated ast and ldh, especially infantile-onset

•

en:decreased monoamine oxidase a activity

•

en:decreased methylcobalamin (mecbl)

•

en:aldosterone concentration below normal

•

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

•

en:severe hypernatremia in neonatal period

•

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

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:high nonceruloplasmin-bound serum copper

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:markedly reduced igg levels

•

en:myoglobinuria with extreme exertion

•

en:normal lysl hydroxylase activity

•

en:no chromosomal breakage

•

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

•

en:urine cortisol, increased

•

en:decreased levels of the e2 subunit protein

•

en:increased serum lactate (patient a)

•

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

•

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

•

en:increased uric acid level

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:dermatan sulfate excretion in urine

•

en:increased plasma renin activity

•

en:glyoxalase deficiency

•

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

•

en:elevated serum long-chain fatty acids

•

en:elevated fibroblast free sialic acid

•

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

•

en:normal transferrin saturation

•

en:partial deficiency of factor xi(c)

•

en:plasma catecholamines decreased

•

en:hereditary fructose intolerance

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:normal apoa-ii levels in homozygotes

•

en:intermittent severe hypoglycemia (in some patients)

•

en:incresased urinary pyruvate

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:elevated urine ceramide levels

•

en:decreased triiodothyronine level

•

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

•

en:alpha 1 foetoprotein amniotic fluid increased

•

en:transferase deficiency galactosemia

•

en:elevated free carnitine

•

en:normal or mildly increased serum creatine kinase

•

en:relatively low urinary pge-m levels

•

en:phosphorylase kinase normal in muscle

•

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

•

en:increased bone-specific alkaline phosphatase

•

en:mildly prolonged bleeding time 10-12 minutes

•

en:lactate dehydrogenase increased

•

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

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:abnormal acylcarnitine profiles

•

en:serum calcium normal

•

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

•

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

•

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

•

en:decreased activity of thiopurine s-methyltransferase

•

en:decreased or absent udp-glucuronyl-transferase activity

•

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

•

en:ketoacidosis

•

en:low plasma arginine

•

en:medium chain dicarboxylic aciduria

•

en:plasma aldosterone increased

•

en:tryptophanuria

•

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

•

en:decreased hepatic gaba transaminase activity

•

en:hypercalciuria

•

en:glucosuria, mild, intermittent

•

en:elevated hcg or afp or both (embryonal carcinoma)

•

en:decreased plasma lpl levels (in some patients)

•

en:low serum alkaline phosphatase in heterozygotes

•

en:decreased grhpr activity

•

en:decreased fibroblast arylsulfatase a

•

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

•

en:aneuploidy of the x chromosome

•

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

•

en:hypocalcemia, transient

•

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

•

en:abetalipoproteinemia (lab finding)

•

en:hyperarginemia

•

en:abnormal nasal potential difference

•

en:upregulation of alpha-interferon-stimulated genes

•

en:increased urinary urate

•

en:increased serum gamma-ggt (231950)

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated pregnenolone

•

en:elevated fasting glucose

•

en:decreased serum vitamin a

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:low-normal igm

•

en:increased urinary sialylglycopeptides

•

en:iodine depletion

•

en:irregularly shaped sperm heads

•

en:isovalericaciduria

•

en:lack of excessive parenchymal iron storage

•

en:lysosomal-like storage vacuoles in various tissues

•

en:low copper and ceruloplasmin

•

en:low leukocyte alkaline phosphatase activity

•

en:low serum levels of branched-chain amino acids

•

en:low to normal plasma methionine

•

en:low urinary orotic acid

•

en:increased urinary excretion of coproporphyrin i

•

en:may have increased serum parathyroid hormone (pth)

•

en:increased urinary n-acetylated amino acids

•

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

•

en:increased urinary citric acid cycle intermediates

•

en:increased urinary carnitine

•

en:increased urinary acetoacetic acid

•

en:increased urinary 3-oh-butyric acid

•

en:increased urinary 3-methylcrotonylglycine

•

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

•

en:methylmalonic aciduria, mild

•

en:increased serum vitamin b12

•

en:increased serum s-adenosylmethionine

•

en:increased serum pyruvate, mild

•

en:increased serum parathyroid hormone (pth)

•

en:increased serum methionine

•

en:increased serum lysine (group b)

•

en:increased serum lactate hydrogenase

•

en:increased serum lactate

•

en:methionine adenosyltransferase deficiency

•

en:normal lysyl oxidase activity

•

en:mitochondrial deletions

•

en:serum creatine kinase may be normal or elevated

•

en:abnormal columnization of chondrocytes

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:very low igm

•

en:tyrosine loss

•

en:type i, classic, decreased antithrombin iii levels

•

en:thrombocytopenia

•

en:tay-sachs disease

•

en:systemic amyloidosis may occur

•

en:sweat test normal

•

en:subtelomeric deletion of chromosome 16p

•

en:submucosal macrophages filled with sphingolipids

•

en:some cilia show central complex and radial spoke defects

•

en:skewed x-inactivation in females

•

en:serum folate normal

•

en:serum creatine kinase may be increased

•

en:neonatal hypocalcemia

•

en:p5c levels increased in urine

•

en:normal 46,xy karyotype

•

en:normal complex ii activity

•

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

•

en:increased serum and csf lactate

•

en:normal to elevated total plasma carnitine

•

en:no hyperphenylalaninemia

•

en:positive urine dnph screening test

•

en:routine liver function tests normal

•

en:predominance of the d-stereoisomer

•

en:presence of pc mrna

•

en:pyrimidinuria

•

en:reduced bending capacity of cilia

•

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

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:increased serum fgf23

•

en:immotile or weakly motile cilia

•

en:increased pristanic acid

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

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

•

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

•

en:dehydration

•

en:deficiency or absence of p22-phox protein

•

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

•

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

•

en:defect in dna repair

•

en:decreased udp-glcnac

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:decreased serum rt3

•

en:decreased red cell pyruvate kinase activity

•

en:decreased levels of certain coagulation factors

•

en:decreased leptin

•

en:decreased fibrinogen (in some patients)

•

en:decreased copper, iron, zinc

•

en:elevated 3-methylcitric acid

•

en:bone marrow hypoplasia (in some patients)

•

en:abnormal liver function tests (in some patients)

•

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

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

en:absent tyrosinase activity

•

en:aminoaciduria (rare)

•

en:at least 2 complementation groups

•

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

•

en:decreased clot retraction

•

en:cholesterol low

•

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

•

en:chromosomal rearrangement

•

en:creatine phosphokinase serum increased

•

en:cystathioninemia

•

en:decreased activity of mitochondrial respiratory complexes

•

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

•

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

•

en:increased plasma levels of bile acid intermediates

•

en:holocarboxylase synthetase deficiency

•

en:increased interleukin 10

•

en:increased il6, episodic

•

en:increased ck-mb

•

en:impaired response to gm-csf

•

en:i-cell disease

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hypoproteinemia due to hypercatabolism

•

en:hypophosphatemia (less common)

•

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

•

en:hypocalciuria or normocalciuria

•

en:hypernatriuria

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:hypercalciuria (in some patients)

•

en:hyperammonemia after protein intake

•

en:high serum guanosine levels

•

en:elevated csf/plasma glycine ratio

•

en:elevated urinary epinephrine

•

en:elevated hepatic transaminases

•

en:elevated plasma alloisoleucine

•

en:elevated sed rate

•

en:elevated serum iron and iron binding capacity

•

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

•

en:elevated total iron-binding capacity

•

en:elevated urinary hyaluronic acid levels

•

en:high plasma citrulline (100-300 micromolar)

•

en:galactosuria without galactosemia

•

en:gaucher disease, type 1

•

en:hemizygous deletion at 4p16.3

•

en:hemoglobin decreased

•

en:hepatic glycine cleavage defect

•

en:hepatic ornithine transcarbamylase deficiency

•

en:abnormal eeg in 25% hospitalized patients

•

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

•

en:abnormal myelination in sural nerve biopsies

•

en:increased serum triglycerides (in some patients)

•

en:low serum acth

•

en:low or undetectable c-peptide

•

en:low or absent follicle stimulating hormone (fsh)

•

en:long-chain ketonuria

•

en:lack of lysosomal inclusions in visceral organs

•

en:keratan sulfate excretion in urine that decreases with age

•

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

•

en:increased urinary isobutyryl glycine

•

en:increased urinary excretion of l-xylulose

•

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

•

en:increased urinary creatine

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased susceptibility to ebv infection

•

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

•

en:low urinary excretion of neutral 17-ketosteroids

•

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

•

en:increased bone serum acid phosphatase

•

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

•

en:increased csf and plasma gaba

•

en:increased csf pyruvic acid

•

en:increased csf threonine

•

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

•

en:increased disialotransferrin and asialotransferrin levels

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased gamma-interferon

•

en:increased ige level

•

en:increased igm level

•

en:increased serum alkaline phosphatase (in some patients)

•

en:increased serum c-reactive protein (crp, 123260)

•

en:increased serum glycerol

•

en:low to normal serum calcium

•

en:marked hypobetalipoproteinemia

•

en:inappropriately low urine osmolality

•

en:serum triglycerides normal

•

en:acute intermittent porphyria

•

en:xanthine nephrolithiasis

•

en:vitamin b12 deficiency (uncommon)

•

en:variable respiratory chain enzyme deficiency

•

en:vacuolated lymphocytes

•

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

•

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

•

en:t cells may be increased or decreased

•

en:tyrosinemia

•

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

•

en:abnormal oral glucose tolerance

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:thyroid hormone organification defect

•

en:severely decreased palmitate oxidation

•

en:schirmer test shows alacrima

•

en:mild-moderate prolonged bleeding time

•

en:occasional hypomagnesemia

•

en:mitochondrial complex i deficiency in muscle

•

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

•

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

•

en:normal activity of von willebrand factor-cleaving protease

•

en:normal lysyl hydroxylase activity

•

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

•

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

•

en:reduced beating amplitudes in cilia

•

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

•

en:premature separation of centromeric heterochromatin

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:prolonged partial thromboplastin time (ptt)

•

en:proper antibody response to protein vaccinations

•

en:pyruvate-induced insulin secretion

•

en:increased blood alanine

•

en:type 1 collagen overmodification

•

en:impaired o-glycosylation

•

en:decreased apoa-i and apoa-ii

•

en:decreased very long-chain acyl-coa dehydrogenase protein and activity

•

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

•

en:decreased switched memory b cells

•

en:decreased serum iga

•

en:decreased serum factor h (atypical hus)

•

en:decreased renal calcium excretion

•

en:decreased or normal serum c3

•

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

•

en:decreased glycerol kinase activity

•

en:decreased erythrocyte plasmalogen

•

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

•

en:decreased dermal hydroxylysine content

•

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

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased agt activity

•

en:deficiency of serum properdin p factor

•

en:axonemes show normal structure

•

en:absence of cpt ii protein

•

en:impaired mitochondrial translation

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

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

•

en:anti-factor viii positive

•

en:azotemia

•

en:decreased activity of triosephosphate isomerase

•

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

•

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

•

en:chronic hypoxemia

•

en:coagulopathy (inr = 2.2 - 3.5)

•

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

•

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

•

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

•

en:argininosuccinic aciduria

•

en:hypoxia

•

en:high m-component

•

en:impaired creatine uptake in fibroblasts

•

en:immotile cilia

•

en:igg, decreased

•

en:hypoprebetalipoproteinemia

•

en:immunoreactive pc protein

•

en:hyponatremic dehydration, rarely

•

en:hypogammaglobulinemia, profound

•

en:hypertriglyceridemia

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:hyperinsulinemia

•

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

•

en:hypercalcemia

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:high sister chromatid exchange (sce) rate

•

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

•

en:heteroplasmic partial duplication of mtdna

•

en:elevated bilirubin (bilirubinemia)

•

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

•

en:direct hyperbilirubinemia

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

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

•

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

•

en:echocardiogram abnormal

•

en:elevated hcg (choriocarcinoma)

•

en:elevated mchc

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated sepiapterin in csf

•

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

•

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

•

en:galactosylation defects

•

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

•

en:low or absent growth hormone (gh)

•

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

•

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

•

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

•

en:methylmalonic acidemia

•

en:mildly elevated blood ammonia

•

en:mild eosinophilia may occur

•

en:mononuclear cell noncaseating granulomatous inflammation on biopsy (lung, skin, lip)

•

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

•

en:low maximal oxygen uptake on exercise testing

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:lactic acidemia (2p21del)

•

en:lactate pyruvate ratio normal

•

en:infantile hypophosphatasia

•

en:increased urinary uracil

•

en:increased urinary lactate

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

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

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum prostaglandin e2

•

en:increased serum growth hormone levels

•

en:normal erythrocyte gs activity

•

en:increased serum ferritin

•

en:normal b12

•

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

•

en:normal extrarenal responses to ddavp administration

•

en:severely impaired ciliary motility

•

en:increased serum acyl carnitines

•

en:2-aminoadipic aciduria

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:widespread interstitial fibrosis (visceral organs)

•

en:vitamin b12 deficiency (in some patients)

•

en:very low iga

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:urinary excretion of sialylated oligosaccharides

•

en:urinary excretion of mucopolysaccharides

•

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

•

en:triglyceride decreased

•

en:smooth muscle antibodies positive

•

en:serum testosterone decreased

•

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

•

en:serum iron low (finding)

•

en:serum cholesterol normal

•

en:serum c-peptide and glucagon levels measurable

•

en:rheumatoid factor positive (finding)

•

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

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

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

•

en:phosphate normal

•

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

•

en:partial deficiency of factor xi (less common)

•

en:no cartilage staining with toluidine blue

•

en:normal to slightly high alkaline phosphatase

•

en:increased serum beta-carotene

•

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

•

en:increased platelet aggregation with ristocetin

•

en:aminoaciduria (in some patients)

•

en:decreased metabolism of thiopurine drugs

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased antithrombin iii (rare)

•

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

•

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

•

en:chylomicronemia, refractory fasting

•

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

•

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

•

en:cell studies show increased dna breakage

•

en:antiribonuclear protein positive

•

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

•

en:aminoaciduria, mild (in some patients)

•

en:decreased von willebrand factor

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

en:alpha-fetoprotein normal

•

en:absent platelet agglutination in presence of ristocetin

•

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

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

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

•

en:abnormal liver enzymes (in some patients)

•

en:abnormal cardiolipin subspecies composition

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:4-hydroxyphenyllactic aciduria

•

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

•

en:absent dystrophin on muscle biopsy

•

en:decreased plasma total cholesterol

•

en:defective bile acid metabolism

•

en:increased plasma homogentisic acid (hga)

•

en:high sweat electrolyte

•

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

•

en:increased disialo- and asialotransferrin

•

en:increased csf histidine

•

en:increased biopterin in urine and csf

•

en:increased alpha-fetoprotein (1 patient)

•

en:increased 11-deoxycorticosterone

•

en:immediate (type i) skin test reactivity

•

en:hypoproteinemia

•

en:hypertriglyceridemia (rare)

•

en:hyperphenylalaninemia

•

en:hypermagnesemia

•

en:hyperbilirubinemia in those with liver failure

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:dyslipidemia

•

en:heparan sulfate excretion in urine

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:glycogen storage disease type vi

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:euvolemia

•

en:elevated urinary 3-methylglutarate

•

en:elevated serum uric acid concentrations

•

en:elevated serum transaminase levels

•

en:elevated liver transaminases

•

en:elevated leukotriene e(4)

•

en:elevated erythrocyte aicar (zmp)

•

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

•

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

•

en:molybdenum cofactor deficiency

•

en:acute hyperammonemia

•

en:metachromasia of white blood cells and fibroblasts

•

en:normal serum transferrin profiles

•

en:normal serum phytanic and pristanic acid

•

en:normal serum biotin concentration

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:normal or mildly increased thyroid-stimulating hormone (tsh)

•

en:normal free urinary cortisol

•

en:multiple tissue biopsies show lysosomal storage disease

•

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

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:mild to moderate hyperammonemia

•

en:mildly increased serum lactate

•

en:mildly elevated hdl in heterozygotes

•

en:median mean platelet volume (mpv) 18fl

•

en:normal to mildly increased mucopolysacchariduria

•

en:low serum concentration of intercellular adhesion molecule 1 (icam1)

•

en:low plasma tryptophan (inflammatory type b)

•

en:little to absent aspartylglucosaminuria activity

•

en:ketonuria

•

en:isovaleric acidemia

•

en:iron overload (in some patients)

•

en:increased urine vanillactic acid (vla)

•

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

•

en:increased urinary oxylate

•

en:increased urinary excretion of camp

•

en:increased urinary dicarboxylic acid, transient

•

en:increased urinary 2-ketoglutarate (variable)

•

en:normal to increased plasma glycine

•

en:normal transferrin isoelectric profile

•

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

•

en:renin decreased

•

en:acylglycinuria

•

en:urine odor, maple syrup

•

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

•

en:thyroid dyshormonogenesis 5

•

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

•

en:shortened telomeres (in 1 of 2 patients)

•

en:serum pristanic acid increased

•

en:serum homocysteine normal

•

en:serum cortisol decreased

•

en:serum cholesterol raised

•

en:serum calcium elevated

•

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

•

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

•

en:normal tyrosinase

•

en:proteinuria in those with cystic kidneys

•

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

•

en:premature chromatid separation (pcs) observed in 5% to 50% cultured lymphocytes during metaphase

•

en:postprandial hyperglycemia (early in disease course)

•

en:platelet glycoprotein iiia deficiency

•

en:pipecolic acid accumulation.

•

en:phytanic acid accumulation

•

en:phosphaturia

•

en:persistent ebv viremia

•

en:pancreatic trypsinogen deficiency

•

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

•

en:normal urinary cyclic amp response to pth administration

•

en:increased urinary, plasma, and csf dihydrothymine

•

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

•

en:increased serum unconjugated bilirubin

•

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

•

en:electrolyte disturbances from intractable diarrhea

•

en:dyskinetic ciliary motility

•

en:dermatan and heparan sulfate excretion in urine

•

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

•

en:decreased tissue and serum alkaline phosphatase

•

en:decreased serum haptoglobin

•

en:decreased serum acth

•

en:decreased serum 18-ohb

•

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

•

en:decreased numbers of t regulatory cells

•

en:decreased mitochondrial complex iii activity seen in muscle

•

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

•

en:decreased csf ferritin despite normal serum ferritin levels

•

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

•

en:decreased cholesterol (less common)

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

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

•

en:decreased adenosylcobalamin

•

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

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:continuous urinary iodine loss

•

en:complex organic aciduria

•

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

•

en:anti-ssb positive

•

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

•

en:increased serum pyruvate

•

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

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

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

•

en:homocitrullinuria

•

en:increased serum lactate (mild)

•

en:elevated levels of vitamin b12

•

en:increased serum lipoproteins

•

en:increased serum bilirubin (in some patients)

•

en:increased serum alanine

•

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

•

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

•

en:increased csf interferon

•

en:hypocholesterolemia

•

en:hyperlysinemia

•

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

•

en:homozygous 122kb deletion 11p15-p14

•

en:increased serum butyryl carnitine

•

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

•

en:ethylmalonic aciduria

•

en:elevated plasma desmosterol

•

en:green urine

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:enzyme replacement therapy has not been effective

•

en:elevated sweat chloride

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

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

•

en:glucose-6-phosphate deficiency

•

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

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:foam cells in visceral organs and cns

•

en:increased serum osteocalcin

•

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

•

en:increased very-long chain fatty acids

•

en:iron low

•

en:increased urinary thiosulfate

•

en:increased urinary glutaric acid

•

en:increased urinary free sialic acid excretion (n-acetylneuraminic acid, 5-20x normal) enlarged lysosomal vacuoles in lymphocytes and fibroblasts

•

en:ketonemia

•

en:increased urinary cortisol/cortisone ratio

•

en:increased urinary catecholamines

•

en:increased urine porphyrins at times

•

en:increased free erythrocyte protoporphyrin

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:increased serum alanine (1 patient)

•

en:increased serum 1,25-dihydroxyvitamin d3

•

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

•

en:increased phytanic acid in body tissues and fluids

•

en:increased fas ligand

•

en:increased csf taurine

•

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

•

en:increased chromosomal breakage

•

en:hypoketotic hypoglycemia

•

en:hypoglycemia, fasting

•

en:hypoalbuminemia (in 83%)

•

en:hyperthreoninuria

•

en:long-chain dicarboxylic aciduria

•

en:normal igm levels

•

en:low or absent igm levels

•

en:normal parathyroid hormone (female)

•

en:tenascin x deficiency (serum and fibroblasts)

•

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

•

en:structural abnormalities seen on chromosome analysis

•

en:serum cortisol elevated

•

en:protein c decreased

•

en:presence of serum anti-lu3 antibodies

•

en:platelet function test normal

•

en:plasma aldosterone normal

•

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

•

en:no chromosome breakage

•

en:normal urinary 17-ketosteroids

•

en:normal or increased serum creatine kinase

•

en:low or undetectable insulin

•

en:normal maltase, isomaltase, and sucrase activity

•

en:normal leukocyte and platelet counts

•

en:normal blood lactate

•

en:nonketotic hypoglycemia

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

en:myoglobinuria (reported in 1 patient)

•

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

•

en:mild elevation of transaminases

•

en:median mean platelet volume (mpv) 20fl

•

en:low rai (radioactive iodine) uptake

•

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

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:decreased or absent dihydropteridine reductase activity

•

en:high urinary copper

•

en:decreased acid sphingomyelinase activity

•

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

•

en:decreased long-chain fatty acid oxidation

•

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

•

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

•

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

•

en:decreased circulating cortisol level

•

en:decreased ciliary motility

•

en:decreased cerebrospinal fluid folic acid

•

en:decreased beta-glucosidase protein and activity

•

en:decreased adiponectin

•

en:decreased activity of tyrosine hydroxylase

•

en:cytogenetics - recombinant chromosome 8 characterized by duplication of 8q22.1-qter and deletion of 8pter-p23.1

•

en:decreased neopterin and biopterin in csf

•

en:chromosomal mosaicism in cultured cells

•

en:ballooned neurons

•

en:aprt deficiency measured in erythrocyte lysate

•

en:antithrombin iii deficiency

•

en:antineutrophil cytoplasmic antibody

•

en:albuminuria

•

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

•

en:abnormal dystrophin on muscle biopsy

•

en:5-hiaa csf may be normal or decreased

•

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

•

en:transaminitis

•

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

•

en:decreased nk cells (in some patients)

•

en:high ornithine

•

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

•

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

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:fragmentation of the mitochondrial network

•

en:fluorescence of red blood cells by uv microscopy

•

en:fibroblasts attach poorly

•

en:epstein-barr viraemia

•

en:elevated urinary delta-aminolevulinic acid

•

en:elevated prothrombin time

•

en:elevated plasma levels of lp(a)

•

en:elevated plasma galactose (galactosemia)

•

en:elevated plasma estrogen

•

en:elevated creatine kinase (in some patients)

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

en:direct coombs test negative

•

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

•

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

•

en:defect in oxidative phosphorylation

•

en:defect in mitochondrial and peroxisomal fission

•

en:defective mitochondrial respiratory enzyme activity

•

en:decreased xanthine dehydrogenase activity

•

en:decreased uros activity (1 patient)

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:decreased serum factor i (atypical hus)

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

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

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:transient neonatal hypoglycemia (2p21del)

•

en:intermittent 3-methylglutaconic aciduria

•

en:myoglobinuria after exertion

•

en:myelin basic protein measurement, spinal fluid

•

en:mucopolysaccharidosis type iiid

•

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

•

en:mild elevation of cholesterol

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:low serum levels of ketone bodies

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:lactate high

•

en:iron binding capacity total increased

•

en:interstitial or terminal deletion of 18q

•

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

•

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

•

en:increased urinary carnitine esters

•

en:increased urinary and serum glycine

•

en:increased urinary adenosine

•

en:increased urinary 2-butanone

•

en:increased serum pyruvate in acute stage

•

en:increased serum creatine kinase in acute stage

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased serum ammonia (group b)

•

en:increased serum, urinary, and csf lysine

•

en:increased plasma branched-chain fatty acids

•

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

•

en:normal calcium (female)

•

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

•

en:increased intracellular fmrp mrna

•

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

•

en:vitamin k deficiency

•

en:very low igg

•

en:uric acid normal

•

en:transient neonatal hypocalcemia (2p21del)

•

en:thyroid dyshormonogenesis 3

•

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

•

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

•

en:some fragmented or disrupted golgi

•

en:serum ferritin hyperglycosylation

•

en:serum creatine kinase may be normal

•

en:serum creatine kinase 20-70 times normal

•

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

•

en:normal or mildly reduced sphingomyelinase activity

•

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

•

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

•

en:patient cells show increased chromosome breakage

•

en:tsh decreased

•

en:partial deficiency of factor xii(c)

•

en:parathyroid hormone normal

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

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

•

en:normal serum lipoprotein levels

•

en:normal renin level

•

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

•

en:normal plasma phytanic acid

•

en:increased levels of carcinoembryonic antigen

•

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

•

en:increased il-8

•

en:decreased activity of dihydrofolate reductase

•

en:decreased testosterone level

•

en:decreased serum thyroxine (t4)

•

en:decreased serum luteinizing hormone (lh)

•

en:decreased serum free thyroxine

•

en:decreased natural killer cells

•

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

•

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

•

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

•

en:decreased circulating aldosterone level

•

en:decreased axonal flare response after intradermal histamine injection

•

en:decreased asparagine levels (in some patients)

•

en:cystathionine beta-synthase deficiency disease

•

en:decreased whole blood serotonin

•

en:creatine kinase levels may normalize with disease progression

•

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

•

en:atrial abnormalities on electrocardiogram

•

en:aminoaciduria (less common)

•

en:abnormal phospholipid profile

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abacterial leukocyturia

•

en:5-oxoprolinase deficiency

•

en:variable hypoglycemia

•

en:type iii collagen defect

•

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

•

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

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:defective (ca2+) mobilization in t cells

•

en:gm2-ganglioside accumulation

•

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

•

en:defect in chylomicron secretion

•

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

•

en:hypocalciuria

•

en:hypertryptophanemia

•

en:hyperglycemias, postprandial

•

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

•

en:hemoglobin f increased

•

en:hb h erythrocyte inclusions

•

en:hair bulb tyrosinase present

•

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

•

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

•

en:galactosuria

•

en:elevated serum levels of adenosine

•

en:dhea sulfotransferase below limit of detection

•

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

•

en:frequent deletions of chromosome 9 in melanoma

•

en:disproportionate work-related increase in blood lactate and pyruvate

•

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

•

en:elevated inflammatory markers

•

en:elevated serum phosphorus

•

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

•

en:elevated uric acid on urinalysis (in some patients)

•

en:fibroblasts show increased sensitivity to apoptosis

•

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

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased serum deoxyuridine

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased plasma lactate

•

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

•

en:increased plasma vldl, ldl

•

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

•

en:increased urinary fumaric acid

•

en:increased serum lactate, particularly after exercise

•

en:increased sodium-potassium pump activity

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased uric acid with exercise

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased urinary hga

•

en:increased urinary methylcitrate

•

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

•

en:increased urinary organic acids (in some patients)

•

en:increased erythrocyte sedimentation rate, episodic

•

en:hereditary angioedema

•

en:increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus

•

en:high serum inosine levels

•

en:increased urinary tricarboxylic acid intermediates

•

en:folic acid deficiency

•

en:glycogen storage disease type v

•

en:glycogen storage disease type vii

•

en:hematuria, gross and microscopic

•

en:hepatic gamma-cystathionase deficiency

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:hyperkalemia

•

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

•

en:hyperlactemia

•

en:hyperlipoproteinemia type i

•

en:hyperornithinemia

•

en:hyperphosphatemia

•

en:hypofibrinogenemia

•

en:hypouricemia

•

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

•

en:increased urinary propionyl glycine

•

en:reduced igg levels, particularly igg2 subclass

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:serum phosphate concentration below normal

•

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

•

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

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:prothrombin time increased

•

en:raised c-reactive protein

•

en:rheumatoid factor negative

•

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

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:severely decreased antigen levels of vwf and factor viii

•

en:severe amyloid angiopathy

•

en:t-cell deficit

•

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

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:variably increased serum creatine kinase

•

en:very low leptin level

•

en:polymorphonuclear leukocytosis, episodic

•

en:normal urinary pterins

•

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

•

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

•

en:liver transaminases normal to slightly increased

•

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

•

en:low-to-normal platelet count

•

en:low level of c4 and c2

•

en:low or low-normal serum t4

•

en:low plasma free and total carnitine

•

en:low serum igg and iga

•

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

•

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

•

en:methemoglobin concentration 12 to 19%

•

en:mild elevation of triglycerides

•

en:normal axonal flare response after intradermal histamine injection

•

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

•

en:normal serum creatine kinase

•

en:normal serum parathyroid hormone (pth)

•

en:normal sweat electrolytes

•

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

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845896 • caches: c1=14 c2=1781 c3=778

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