Diko : en:serum transaminase increased

en:serum transaminase increased

Catégories

Nom

Informations lexicales

Langue:anglais

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umls:C0859350

Associations d'idées

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1000

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

•

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

•

en:serum and csf lactate may be increased

•

en:abnormal columnization of chondrocytes

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:folate-dependent fragile site at xq28

•

en:increased csf taurine

•

en:increased plasma proglucagon

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:normal cd8+/cd4+ ratio

•

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

•

en:normal serum liver enzymes

•

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

•

en:pyruvate-induced insulin secretion

•

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

•

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

•

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

•

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

•

en:elevated acth

•

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

•

en:decreased long-chain fatty acid oxidation

•

en:cerebrospinal fluid oligoclonal bands

•

en:platelet count normal

•

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

•

en:aminoaciduria, intermittent

•

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

•

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

•

en:increased serum and csf lactate

•

en:normal serum plasmalogen

•

en:normal to slightly high alkaline phosphatase

•

en:antithrombin iii decreased

•

en:severely decreased antigen levels of vwf and factor viii

•

en:blood urea nitrogen increased

•

en:hepatic gamma-cystathionase deficiency

•

en:increased circulating renin level

•

en:increased intracellular fmrp mrna

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

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

•

en:increased urinary tricarboxylic acid intermediates

•

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

•

en:increased plasma creatine

•

en:relatively low urinary pge-m levels

•

en:iron deficiency

•

en:intermittent dicarbonic aciduria

•

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

•

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

•

en:hypomethioninemia

•

en:elevated serum bile acids

•

en:elevated lathosterol

•

en:defect in n- and o-glycosylation

•

en:decreased mucosal alkaline phosphatase

•

en:abacterial leukocyturia

•

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

•

en:alkaline phosphatase serum increased

•

en:abnormal fecal fat

•

en:increased serum and csf glycine

•

en:pms show deficient oxidation of debrisoquine

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:normal lysl hydroxylase activity

•

en:decreased aminoacylase-1 activity

•

en:low apolipoprotein

•

en:low to normal serum calcium

•

en:increased il-8

•

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

•

en:female carriers show markedly skewed x inactivation

•

en:elevated long chain fatty acids

•

en:decreased phytanic acid oxidase activity

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:hereditary factor x deficiency

•

en:'rectilinear profiles' ultrastructurally in cells

•

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

•

en:aldolase a deficiency

•

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

•

en:decreased activity of the e2 subunit (lipoyl transacetylase, 608770) of the pdh

•

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

•

en:increased pristanic acid

•

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

•

en:reduced platelet glycoprotein ib complex

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:cowchock syndrome

•

en:aminoaciduria

•

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

•

en:glycogen storage disease type vii

•

en:increased serum alkaline phosphatase (in some patients)

•

en:increased urinary 7-biopterin (primapterin)

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:increased serum ferritin

•

en:increased ck-mb

•

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

•

en:elevated urinary 3-methylglutaconate

•

en:chronic hypoxemia

•

en:elevated plasma insulin

•

en:elevated 8-dehydrocholesterol

•

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

•

en:decreased agt activity

•

en:phosphaturia (in some)

•

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

•

en:normal constitutional karyotype

•

en:increased urinary 2-methylbutyryl glycine

•

en:prominent leukocytosis (30,000/ml)

•

en:hyperuricosuria

•

en:abnormal cardiolipin subspecies composition

•

en:normal exocrine pancreatic function

•

en:low serum alpha-fetoprotein (recessive)

•

en:leukocytosis

•

en:increased urinary methylcitrate

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:sterol 27-hydroxylase deficiency

•

en:hyperphosphatemia

•

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

•

en:elevated alkaline phosphatase (in one patient)

•

en:direct coombs test negative

•

en:decreased blood levels of cationic amino acids

•

en:high nonceruloplasmin-bound serum copper

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:lack of excessive parenchymal iron storage

•

en:intermittent increase of urinary ethylmalonic acid

•

en:increased serum and urinary lactate

•

en:impaired response to gm-csf

•

en:immotile or weakly motile cilia

•

en:decreased ubiquinone-10

•

en:hypercholesterolemia

•

en:hereditary xanthinuria

•

en:defect in double-stranded dna repair

•

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

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

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

•

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

•

en:low csf creatinine

•

en:karyomegaly may be found in other visceral organs

•

en:normal to increased plasma threonine

•

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

•

en:vitamin b12 deficiency (in some patients)

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:plasma catecholamines decreased

•

en:increased urinary dicarboxylic acid, transient

•

en:increased il1b increased soluble il2r

•

en:elevated total iron-binding capacity

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:decreased or normal plasma insulin

•

en:decreased fbp1 enzyme activity

•

en:agammaglobulinemia

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:uric acid normal

•

en:rhabdomyolysis in response to alcohol

•

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

•

en:increased alpha-fetoprotein (1 patient)

•

en:holocarboxylase synthetase deficiency

•

en:fibroblasts show decreased mitochondrial complex v activity

•

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

•

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

•

en:decreased csf pyridoxal

•

en:cytogenetic deletion of chromosome 19q13

•

en:creatine kinase levels may normalize with disease progression

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:metabolic acidosis

•

en:normal red cell counts

•

en:secondary decrease of plasma free carnitine

•

en:low to very low hdl cholesterol

•

en:smooth muscle antibodies positive

•

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

•

en:raised c-reactive protein

•

en:medium chain dicarboxylic aciduria

•

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

•

en:increased urinary hga

•

en:increased urinary excretion of l-xylulose

•

en:factor vii deficiency

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:some fragmented or disrupted golgi

•

en:serum iron raised

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:abnormal urinary mucopolysaccharides (elevated unsaturated nonsulfated disaccharides and decreased unsaturated 6-sulfated disaccharides)

•

en:cytoplasmic lamellar concentric inclusions

•

en:howell-jolly bodies seen in peripheral blood smear

•

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

•

en:increased triglycerides (less common)

•

en:phospholipid antibody positive

•

en:serum chloride level decreased (finding)

•

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

•

en:abnormal n-glycosylation of transferrin

•

en:hypocholesterolemia

•

en:increased creatine kinase (ck)

•

en:increased urinary propionyl glycine

•

en:ketosis

•

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

•

en:premature separation of centromeric heterochromatin

•

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

•

en:high ebv viral load

•

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

•

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

•

en:methylmalonic acidemia

•

en:methylsuccinic aciduria

•

en:mildly elevated blood ammonia

•

en:normal isoelectric focusing of serum transferrin

•

en:mitochondrial deletions

•

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

•

en:neutropenia (in 1 patient)

•

en:normal igm levels

•

en:low total serum protein

•

en:normal or increased serum phytanic acid

•

en:normal serum 25-hydroxyvitamin d3

•

en:may have increased serum parathyroid hormone (pth)

•

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

•

en:low maximal oxygen uptake on exercise testing

•

en:long-chain dicarboxylic aciduria

•

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

•

en:lactate dehydrogenase increased

•

en:increased urinary sulfatides

•

en:increased urinary phospholipids

•

en:increased urinary dopamine

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased urinary catecholamines

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:increased tissue levels of free fatty acids

•

en:increased serum total cholesterol

•

en:increased serum lactate hydrogenase

•

en:normal to prolonged bleeding time

•

en:normal serum bile acids

•

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

•

en:normocalcemia

•

en:thrombocytosis (in some patients)

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

en:acute-phase reactants during fever

•

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

•

en:absence of beta-ureidopropionase activity and protein in liver biopsy

•

en:abnormal urinary oligosaccharides

•

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

•

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

•

en:abnormal liver enzymes during illness

•

en:4-hydroxyphenylacetic aciduria

•

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

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

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

•

en:telomere shortening

•

en:no cartilage staining with toluidine blue

•

en:increased serum creatine kinase during episodes

•

en:severe amyloid angiopathy

•

en:serum osmolality decreased

•

en:reduced erythrocyte adenosine deaminase activity

•

en:pyruvic acidemia

•

en:proteinuria (type ii, congenital)

•

en:prolonged bleeding time

•

en:prolonged activated partial prothrombin time (appt)

•

en:presence of pc mrna

•

en:pipecolic acidemia

•

en:peroxisome deficiency

•

en:pentagastrin stimulation test

•

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

•

en:no ketosis

•

en:increased serum lactate (patient a)

•

en:hawkinsinuria

•

en:increased serum alanine (1 patient)

•

en:decreased beta-thromboglobulin

•

en:decreased serum cholesterol (in some)

•

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

•

en:decreased phk activity in liver

•

en:decreased or normal serum factor i

•

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

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

en:decreased methionine synthase activity

•

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

•

en:decreased glycerol kinase activity

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:decreased factor xi

•

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

•

en:decreased c3 antigen

•

en:decreased activity of 2-oxoacid dehydrogenases

•

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

•

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

•

en:cutaneous anergy

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:chromosomal instability

•

en:cd4+/cd8+ ratio often reversed

•

en:anti-ssb positive

•

en:adrenocorticotropic hormone, increased

•

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

•

en:absent or severely reduced levels of serum immunoglobulins

•

en:abnormal transaminases (1 patient)

•

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

•

en:abnormal liver function tests (in some patients)

•

en:abnormal eeg in 25% hospitalized patients

•

en:decreased tissue and serum alkaline phosphatase

•

en:defect in retrograde intraflagellar transport in cilia

•

en:increased renal tubular phosphate reabsorption

•

en:albuminuria

•

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

•

en:increased igg level

•

en:increased csf interferon alpha

•

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

•

en:increased c10:2-carnitine

•

en:impaired oxidation of pyruvate

•

en:impaired n-glycosylation

•

en:hypoketotic hypoglycemia

•

en:hypokalemia occurs during paralytic attacks

•

en:hypoglycosylation of plasma glycoproteins

•

en:hypogammaglobulinemia

•

en:hyperammonemia

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:green serum

•

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

•

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

•

en:glucosuria, mild, intermittent

•

en:glomerular filtration rate decreased

•

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

•

en:elevated urinary and csf ribitol and d-arabitol

•

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

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated hcg (choriocarcinoma)

•

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

•

en:elevated ast (aspartate aminotransferase) and cpk (creatine phosphokinase)

•

en:elevated alpha-ketoglutarate (in most patients)

•

en:elevated afp (endodermal sinus tumor)

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:dicarboxylic aciduria

•

en:adenylosuccinase deficiency (finding)

•

en:decreased plasminogen antigen

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

en:increased urinary 2-methylbutyrylglycine

•

en:low or absent luteinizing hormone (lh)

•

en:low ldl cholesterol

•

en:low density lipoprotein increased

•

en:low csf creatine

•

en:low acth level

•

en:low-molecular-weight proteinuria

•

en:little to absent aspartylglucosaminuria activity

•

en:lactate high

•

en:isochromosome often missing in lymphocyte

•

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

•

en:iodide organification defect

•

en:increased urinary neopterin

•

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

•

en:increased urinary 2-butanone

•

en:low to low-normal magnesium

•

en:increased total bilirubin may occur

•

en:increased serum triglycerides (in some patients)

•

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

•

en:increased serum lipoproteins

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum gamma-ggt (231950)

•

en:increased serum creatine kinase in acute stage

•

en:increased serum bile acids

•

en:increased prevalence among the native american lumbee indians

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased histidine in blood, urine, and csf

•

en:increased excretion of urobilinogen

•

en:increased erythrocyte sedimentation rate, episodic

•

en:increased 18-ohb to aldosterone ratio

•

en:low plasma arginine

•

en:metachromasia of white blood cells and fibroblasts

•

en:impaired creatine uptake in fibroblasts

•

en:reduced igg levels, particularly igg2 subclass

•

en:vitamin d deficiency

•

en:aminoaciduria, mild (in some patients)

•

en:undetectable urinary hypoxanthine

•

en:tyrosinemia (transient, resolves in infancy)

•

en:type iii collagen defect

•

en:translocation between 18q21 and 14q32

•

en:thyroid peroxidase defect

•

en:thyroid hormones increased

•

en:tay-sachs disease

•

en:skewed x-inactivation in females

•

en:serum testosterone level normal

•

en:serum copper decreased

•

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

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:mild-moderate prolonged bleeding time

•

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

•

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

•

en:pt normal

•

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

•

en:protein total decreased

•

en:plasma ammonia not elevated

•

en:plasma aldosterone increased

•

en:no evidence of common prenatal infections

•

en:normal urinary pterins

•

en:normal transferrin isoelectric profile

•

en:normal serum parathyroid hormone (pth)

•

en:normal male karyotype (46,xy)

•

en:normal calcium (female)

•

en:n-glycosylation defect

•

en:impaired o-glycosylation

•

en:low or absent iga levels

•

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

•

en:decreased antithrombin iii (rare)

•

en:decreased tissue total and free carnitine

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:decreased plasma zinc levels

•

en:decreased or normal serum factor b

•

en:decreased or absent serum ceruloplasmin

•

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

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased levels of certain coagulation factors

•

en:decreased ldl cholesterol

•

en:decreased insulin receptor binding

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased beta-glucosidase protein and activity

•

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

•

en:decreased activity of thymidine phosphorylase

•

en:defective dna repair after ultraviolet radiation damage

•

en:decreased activity of the pdh phosphatase

•

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

•

en:decreased activity of complement factor d

•

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

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:creatine kinase normal between episodes

•

en:cd4/cd8 ratio decreased

•

en:bilirubin conjugated increased

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:hyperglycinemia (1 patient)

•

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

•

en:aneuploidy of the x chromosome

•

en:decrease plasma serine (fasting)

•

en:decreased eno3 activity

•

en:defects in mitochondrial oxidative phosphorylation

•

en:fibrinogen decreased

•

en:hyperchloremia (mean 114 mm)

•

en:hypercalciuria (in childhood)

•

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

•

en:hereditary angioedema

•

en:hematuria (less common)

•

en:hematuria, gross and microscopic

•

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

•

en:glutathione deficiency

•

en:glutaric acidemia type 1

•

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

•

en:fumarase deficiency

•

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

•

en:fibronectin decreased

•

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

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:extremely low creatine excretion

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:delta-1-pyrroline-5-carboxylate (p5c) levels increased in plasma

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:electrolyturia (1 patient)

•

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

•

en:elevated gastrin concentration

•

en:elevated plasma methionine (methioninemia)

•

en:elevated progesterone

•

en:elevated sed rate

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:elevated urinary 3-methylglutarate

•

en:increased urinary prostaglandin e2

•

en:increased urinary cortisol/cortisone ratio

•

en:increased urinary cyclic amp (camp) in response to ddavp administration

•

en:increased urinary homovanillic acid (hva)

•

en:increased urinary lactate

•

en:leukotriene c4 synthetase deficiency

•

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

•

en:isovalerylglycinuria

•

en:ketonemia

•

en:kypokalemia

•

en:lactic acidemia (2p21del)

•

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

•

en:lipopigment in extraneuronal cells

•

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

•

en:increased serum bilirubin due to hemolysis

•

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

•

en:increased serum parathyroid hormone (pth)

•

en:increased serum methionine

•

en:increased serum levels of free plasma thyroid hormones

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:increased serum creatine kinase (less common)

•

en:increased serum beta-carotene

•

en:increased serum alpha-mannosidase

•

en:increased serum 1,25-dihydroxyvitamin d3

•

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

•

en:increased plasma pristanic acid

•

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

•

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

•

en:low serum alkaline phosphatase in heterozygotes

•

en:low copper and ceruloplasmin

•

en:prolonged partial thromboplastin time

•

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

•

en:normal serum cobalamin

•

en:increased csf immunoglobulin levels

•

en:propionic acidemia

•

en:presence of serum anti-lu3 antibodies

•

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

•

en:plasma triglycerides increased

•

en:plasma aldosterone normal

•

en:phytanic acid increased

•

en:oligospermia or azoospermia

•

en:occasionally mild elevation of csf protein

•

en:no metabolic abnormalities

•

en:no increased sensitivity to oxidative species

•

en:no evidence of intrauterine infection in mother or newborn

•

en:no chromosome breakage

•

en:normal serum erythropoietin (epo, 133170)

•

en:normal or mildly decreased arylsulfatase a activity

•

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

•

en:normal number of t and b lymphocytes

•

en:normal lysosomal hydrolases

•

en:normal leukocyte and platelet counts

•

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

•

en:nonketotic hypoglycemia

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

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

•

en:mitochondria dna deletion

•

en:mild hypertriglyceridemia

•

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

•

en:methionine adenosyltransferase deficiency

•

en:marked elevation of erythrocyte sedimentation rate

•

en:markedly reduced iga levels

•

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

•

en:increased csf protein during acute illness

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:increased 18-hydroxycortisol

•

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

•

en:decreased renal calcium excretion

•

en:decreased plasma esterified cholesterol

•

en:decreased plasma apolipoprotein c-ii

•

en:decreased plasmalogens

•

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

•

en:decreased neopterin and biopterin in urine

•

en:decreased methylmalonyl-coa mutase activity

•

en:decreased circulating aldosterone level

•

en:decreased activity of mitochondrial complex i

•

en:decreased activity of dihydrofolate reductase

•

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

•

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

•

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

•

en:creatine phosphokinase increased

•

en:decreased switched memory b cells

•

en:ceruloplasmin decreased

•

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

•

en:antiphospholipid antibody

•

en:aminoaciduria (less common)

•

en:aminoaciduria (1 patient)

•

en:acth normal

•

en:absent 7-dehydrocholesterol

•

en:absence of cpt ii protein

•

en:abnormal urinary collagen-derived pyridinium crosslinks (absent glc-gal-pyd)

•

en:abnormal secretin test

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abnormal liver enzymes, intermittent

•

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

•

en:reduced bending capacity of cilia

•

en:decreased scad activity

•

en:decreased triiodothyronine level

•

en:hypoproteinemia

•

en:glycogen storage disease type vi

•

en:hypoglycemia, fasting

•

en:hypobetalipoproteinemias

•

en:hyperuricemia

•

en:hyperprostaglandinuria

•

en:hyperphosphatemia, transient

•

en:hyperphenylalaninemia

•

en:hyperlipoproteinemia type iib

•

en:high ornithine

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:hepatic ornithine transcarbamylase deficiency

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:hepatic argininosuccinase deficiency

•

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

•

en:glyoxalase deficiency

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:defect in chylomicron secretion

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:factor viii deficiency

•

en:elevated urinary mevalonic acid

•

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

•

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

•

en:elevated serum transferrin saturation

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:elevated free carnitine

•

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

•

en:elevated cerebrospinal fluid (csf) protein

•

en:elevated 3-hydroxypropionic acid

•

en:dilated rough endoplasmic reticulum (rer)

•

en:deficiency of fructokinase

•

en:protein urine absent

•

en:increased tissue long-chain fatty acids

•

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

•

en:increased urinary l-glycerate

•

en:mildly elevated creatine phosphokinase

•

en:mildly elevated acth

•

en:microdeletion 22q11.2

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:median mean platelet volume 13fl

•

en:median mean platelet volume (mpv) 18fl

•

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

•

en:low serum uric acid

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low-to-normal platelet count

•

en:lactic acidemia

•

en:incresased urinary pyruvate

•

en:increased urine vanillactic acid (vla)

•

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

•

en:mild hyperammonemia

•

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

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased urinary and serum glycine

•

en:increased transferrin saturation (>60%)

•

en:increased susceptibility to ebv infection

•

en:increased serum pyruvate in acute stage

•

en:increased serum deoxyuridine

•

en:increased serum c4 and c5 acylcarnitine esters

•

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

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased rai (radioactive iodine) uptake

•

en:increased plasma vldl, ldl

•

en:increased osmotic fragility

•

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

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:mitochondrial complex i deficiency in muscle

•

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

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:serum calcium normal

•

en:urine osmolarity decreased

•

en:triglyceride decreased

•

en:thrombocytopenia

•

en:tenascin x deficiency (serum and fibroblasts)

•

en:t-lymphocytopenia

•

en:systemic amyloidosis may occur

•

en:severe hypernatremia in neonatal period

•

en:serum homocysteine normal

•

en:serum creatine kinase may be normal

•

en:serum bilirubin increased

•

en:round, yellow-brown dha urine crystals

•

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

•

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

•

en:mucopolysaccharidosis type iiid

•

en:organic aciduria

•

en:no hyperuricemia

•

en:normal to slightly elevated plasma cholesterol

•

en:normal serum lipoprotein levels

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:normal renin level

•

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

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:normal csf neurotransmitters

•

en:normal-elevated plasma testosterone (male range)

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:myoglobinuria with extreme exertion

•

en:myoglobinuria after exertion

•

en:myelin basic protein measurement, spinal fluid

•

en:increased igm level

•

en:serum cortisol decreased

•

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

•

en:absent ch50 activity in complete c4 deficiency

•

en:decreased phgdh activity (fibroblasts)

•

en:decreased or absent gch1 activity

•

en:decreased monoamine oxidase a activity

•

en:decreased levels of csf hypocretin (hcrt, 602358)

•

en:decreased hepatic gaba transaminase activity

•

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

•

en:decreased beta-galactosidase activity

•

en:decreased activity of phosphoglycerate kinase 1

•

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

•

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

•

en:chromosome 11q23.3 deletion

•

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

•

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

•

en:absent axonal flare response after intradermal histamine injection

•

en:decreased serum cobalamin

•

en:absent alkyl-dhap synthase activity

•

en:abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and brainstem

•

en:abnormal serum liver enzyme levels

•

en:abnormal liver function test

•

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

•

en:abnormal igfr1 function

•

en:aberrant gamma-interferon-mediated inflammation

•

en:transaminitis

•

en:urine uric acid decreased

•

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

•

en:transcobalamin ii deficiency

•

en:serum creatinine raised

•

en:increased csf pyruvic acid

•

en:serum corticosterone increased

•

en:decreased red cell pyruvate kinase activity

•

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

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:high m-component

•

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

•

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

•

en:decreased serum trypsinogen

•

en:increased cellular sensitivity to uv light

•

en:increased 11-deoxycortisol

•

en:inappropriately low urine osmolality

•

en:hyponatremic dehydration, rarely

•

en:hyperornithinemia

•

en:hyperkalemia

•

en:hyperinsulinemia

•

en:hla-dqw6 association (dqb1*0602)

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:high serum inosine levels

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:immunoglobulin antibodies present

•

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

•

en:elevated plasma acth

•

en:gm2-ganglioside accumulation

•

en:disseminated intravascular coagulation

•

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

•

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

•

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

•

en:elevated il6

•

en:elevated plasma estrogen

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:elevated plasma galactose (galactosemia)

•

en:elevated serum alpha-fetoprotein

•

en:decreased urinary sulfate

•

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

•

en:galactosuria

•

en:increased total and conjugated bilirubin

•

en:increased urinary 2-hydroxybutyrate

•

en:increased urinary 3-methylcrotonylglycine

•

en:low-to-normal csf lactate

•

en:iodine depletion

•

en:karyotype analysis normal finding

•

en:ketoses, metabolic

•

en:low to normal plasma methionine

•

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

•

en:increased serum thrombopoietin may occur

•

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

•

en:increased serum s-adenosylmethionine

•

en:increased serum lactate dehydrogenase (ldh)

•

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

•

en:increased serum iduronate sulfatase (10-20x)

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:increased plasma renin activity

•

en:increased csf 3-methoxytyrosine (3-mt)

•

en:increased ammonia with exercise

•

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

•

en:inappropriately increased urine osmolality

•

en:mildly elevated transaminases

•

en:igg, elevated

•

en:iga antiendomysial antibodies (ema)

•

en:microscopic hematuria

•

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

•

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

•

en:very low density lipoprotein increased

•

en:blood glucose normal

•

en:hypophosphatemia (less common)

•

en:bile contains cholesterol crystals

•

en:anti-ds dna antibody

•

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

•

en:absent platelet agglutination in presence of ristocetin

•

en:abnormal liver enzymes, intermittent (1 patient)

•

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

•

en:5-hiaa csf may be normal or decreased

•

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

•

en:very low leptin level

•

en:urine odor, maple syrup

•

en:neutral hyperaminoaciduria

•

en:serum triglycerides normal

•

en:serum transferrin glycosylation is normal

•

en:serum complement decreased

•

en:raised tsh level

•

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

•

en:poor mitogenic response to growth factors

•

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

•

en:partial deficiency of factor xi (less common)

•

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

•

en:p5c levels increased in urine

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal extrarenal responses to ddavp administration

•

en:hypoproteinemia due to hypercatabolism

•

en:decreased serum bun

•

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

•

en:cilia may also be static, with slow activity

•

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

•

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

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

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

•

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

•

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

•

en:decreased csf ferritin despite normal serum ferritin levels

•

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

•

en:decreased acid beta galactosidase protein and activity

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

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

•

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

•

en:aspartylglycosaminuria

•

en:anti-factor viii positive

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

en:accumulation of cholesterol esters in various tissues

•

en:absence of peroxidase staining in neutrophils and monocytes

•

en:absence of hepatic udp-glucuronyl-transferase

•

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

•

en:abetalipoproteinemia (lab finding)

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

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

•

en:decreased serum thiamine pyrophosphate

•

en:decreased urinary calcium and phosphate excretion

•

en:hypocitraturia

•

en:fasting ketosis

•

en:hypocalciuria or normocalciuria

•

en:hyperthreoninuria

•

en:hyperoxalaemia

•

en:hyperkalemia during attacks

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:hypergammaglobulinemia

•

en:hyperchloremia (mean 111 mm)

•

en:homocystinuria (in some patients)

•

en:high ft3/ft4 ratio

•

en:hemizygous deletion at 4p16.3

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:farber lipogranulomatosis

•

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

•

en:eosinophilia, mild

•

en:elevated urinary ornithine, lysine, arginine

•

en:elevated serum iron

•

en:elevated sepiapterin in csf

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated plasma ammonia

•

en:elevated ferritin l subunit

•

en:elevated fasting glucose

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated blood spot hydroxybutyryl carnitine

•

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

•

en:elevated 17-hydroxyprogesterone

•

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

•

en:ethylmalonic aciduria

•

en:cells show increased sensitivity to ionizing radiation

•

en:low free carnitine

•

en:mild to moderate hyperammonemia

•

en:methemoglobin concentration 12 to 19%

•

en:mean platelet volume (mpv) 12.6fl

•

en:markedly reduced igg levels

•

en:lysyl hydroxylase deficiency

•

en:lysine-ketoglutarate reductase deficiency

•

en:low serum acth

•

en:low plasma tryptophan (inflammatory type b)

•

en:low plasma methionine

•

en:low or undetectable c-peptide

•

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

•

en:low cholesterol esterification rates

•

en:normal activity of von willebrand factor-cleaving protease

•

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

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

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

•

en:inner and outer dynein arm defects, variable

•

en:increased urine oligosaccharides

•

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

•

en:increased urinary organic acids (in some patients)

•

en:increased urinary excretion of cystine

•

en:increased urinary adenosine

•

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

•

en:increased serum iduronate sulfatase

•

en:molybdenum cofactor deficiency

•

en:normal eosinophil peroxidase activity

•

en:increased serum butyryl carnitine

•

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

•

en:widespread interstitial fibrosis (visceral organs)

•

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

•

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

•

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

•

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

•

en:sialylation defects

•

en:serum thyroxine may be decreased or normal

•

en:serum pristanic acid increased

•

en:serum iron normal

•

en:serum ferritin hyperglycosylation

•

en:serum creatine kinase 20-70 times normal

•

en:saposin a deficiency (finding)

•

en:normal serum folate levels

•

en:reduced unsaturated serum cobalamin binding capacity

•

en:prothrombin time increased

•

en:prolonged partial thromboplastin time (ptt)

•

en:prolonged activated partial thromboplastin time (aptt)

•

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

•

en:phytanic acid accumulation

•

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

•

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

•

en:partial deficiency of factor xiii (less common)

•

en:cholesterol low

•

en:no c8 antigen detected

•

en:increased serum creatine kinase (1 family)

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

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

•

en:decreased or absent histidase activity

•

en:elevated branched-chain amino acids (in most patients)

•

en:elevated alkaline phosphatase

•

en:elevated 2-ketoglutarate (urine)

•

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

•

en:decreased telomere length in lymphocytes

•

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

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:decreased serum igm

•

en:decreased serum and muscle coenzyme q

•

en:decreased serum 25-hydroxyvitamin d

•

en:decreased plasma lpl levels (in some patients)

•

en:decreased metabolism of thiopurine drugs

•

en:elevated liver transaminases

•

en:decreased leptin

•

en:decreased fibroblast arylsulfatase a

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:decreased complement factor d

•

en:decreased clot retraction

•

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

•

en:decreased activity of tyrosine hydroxylase

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:decreased activities of multiple sulfatases

•

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

•

en:increased plasma proinsulin

•

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

•

en:decreased mitochondrial complex v assembly

•

en:elevated serum transaminase levels

•

en:high plasma asparagine

•

en:increased peripheral blood monocytes

•

en:elevated urinary delta-aminolevulinic acid

•

en:increased interferon-alpha signal

•

en:increased ige level

•

en:increased csf and plasma gaba

•

en:increased bone serum acid phosphatase

•

en:hypoglycosylated serum transferrin

•

en:hypertriglyceridemia

•

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

•

en:hypercalcemia

•

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

•

en:hypogammaglobulinemia, profound

•

en:heparin cofactor ii deficiency (disorder)

•

en:folic acid deficiency

•

en:epstein-barr viraemia

•

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

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:foam cells in visceral organs and cns

•

en:frequent deletions of chromosome 9 in melanoma

•

en:glucose-6-phosphate deficiency

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:hemizygous deletion at 7q11.23

•

en:hemoglobin f increased

•

en:elevated urinary epinephrine

•

en:increased urinary fumaric acid

•

en:isovaleric acidemia

•

en:increased urinary sulfatide excretion

•

en:increased urinary taurine

•

en:intermittent 3-methylglutaconic aciduria

•

en:intermittent severe hypoglycemia (in some patients)

•

en:low serum calcium

•

en:ketonuria (1 patient)

•

en:liver function tests normal

•

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

•

en:low plasma free and total carnitine

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:low serum levels of ketone bodies

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased urinary creatine

•

en:hyperchloremia (mean 109 mm)

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased plasma phospholipids

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased neopterin in urine and csf

•

en:increased csf threonine

•

en:increased csf interferon

•

en:immunoreactive pc protein

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:hypertriglyceridemia (in some patients)

•

en:hyperoxaluria

•

en:high sister chromatid exchange (sce) rate

•

en:hereditary fructose intolerance

•

en:mildly elevated urinary mevalonic acid

•

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

•

en:sweat test normal

•

en:monomeric igm

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:uremia

•

en:unresponsive to acth stimulation

•

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

•

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

•

en:thyroid dyshormonogenesis 4

•

en:submucosal macrophages filled with sphingolipids

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:reticulocytosis

•

en:renin decreased

•

en:proteinuria in those with cystic kidneys

•

en:proper antibody response to protein vaccinations

•

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

•

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

•

en:platelet factor 4 decreased

•

en:patient cells show increased chromosome breakage

•

en:multiple autoantibodies

•

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

•

en:partial deficiency of factor xii(c)

•

en:orotic acid crystalluria

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:normal serum phytanic and pristanic acid

•

en:normal serum cobalamin (vitamin b12)

•

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

•

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

•

en:normal igg levels

•

en:normal collagen type i studies

•

en:neutrophilia, both basal and during infections

•

en:neonatal hyperbilirubinemia

•

en:n-acetyl-alpha-d-glucosaminidase deficiency in fibroblasts

•

en:multiple tissue biopsies show lysosomal storage disease

•

en:green urine

◀

Génériques

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en:serum

en:serum transa... fait partie de

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• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

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