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

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

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(id=6846464)

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

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:prolonged prothrombin time (pt)

•

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

•

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

•

en:normal collagen type i studies

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:low-to-normal platelet count

•

en:increased urinary isobutyryl glycine

•

en:increased urinary excretion of cystine

•

en:iiga and igg antigliadin antibodies (aga)

•

en:frequent deletions of chromosome 9 in melanoma

•

en:creatine phosphokinase increased

•

en:serum c-peptide and glucagon levels measurable

•

en:prominent leukocytosis (30,000/ml)

•

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

•

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

•

en:microtubule disorganization in some cilia

•

en:increased uric acid level

•

en:increased serum uric acid

•

en:inappropriately increased urine osmolality

•

en:elevated resting serum lactate, increased with exercise

•

en:elevated blood spot hydroxybutyryl carnitine

•

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

•

en:serum calcium elevated

•

en:positive urinary bratton-marshall test

•

en:normal urinary pterins

•

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

•

en:markedly reduced igg levels

•

en:incresased urinary pyruvate

•

en:increased serum methionine (reported in 2 cases)

•

en:immotile cilia

•

en:hypomagnesemia

•

en:decreased transferrin increased serum iron

•

en:decreased hepatic gaba transaminase activity

•

en:abnormal lipid profile

•

en:laboratory abnormalities

•

en:systemic amyloidosis may occur

•

en:phytanic acid increased

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

en:increased plasma long-chain acylcarnitines

•

en:increased c10:2-carnitine

•

en:impaired response to gm-csf

•

en:hypocalcemia (male)

•

en:howell-jolly bodies seen in peripheral blood smear

•

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:decreased natural killer cells

•

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

•

en:absent or abnormal thyroglobulin

•

en:3-methylglutaric aciduria (3-mga)

•

en:partial deficiency of factor xii(c)

•

en:no hyperuricemia

•

en:normal serum creatine kinase

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:medium chain dicarboxylic aciduria

•

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

•

en:increased urinary taurine

•

en:increased urinary carnitine esters

•

en:hyperuricosuria

•

en:hypermagnesiuria

•

en:hyperammonemia, episodic

•

en:elevated plasma phytanic acid

•

en:decreased tetrasialotransferrin levels

•

en:decreased plasma lpl levels (in some patients)

•

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

•

en:decreased c3 activity

•

en:cytoplasmic lamellar concentric inclusions

•

en:serum ferritin normal

•

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

•

en:panhypogammaglobulinemia

•

en:lactic acidemia (2p21del)

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:impaired oxidation of pyruvate

•

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

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased beta-galactosidase activity

•

en:accumulation of guanidinoacetate in brain

•

en:absent tyrosinase activity

•

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

•

en:round, yellow-brown dha urine crystals

•

en:reduced serum uric acid

•

en:low to normal serum calcium

•

en:hyperphosphatemia

•

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

•

en:decreased neopterin and biopterin in csf

•

en:anti-factor viii positive

•

en:absent igg2 subclass

•

en:abnormal urinary organic acids

•

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

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:presence of pc mrna

•

en:multi-tailed spermatozoa

•

en:low cd4+ count

•

en:increased urinary vanillylmandelic acid (vma)

•

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

•

en:high serum osmolality

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:hemophilia b

•

en:excessive urinary 5-oxo-l-proline

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:decreased serum vitamin a

•

en:decreased mitochondrial nadp(h)

•

en:decreased activities of multiple sulfatases

•

en:creatine decreased

•

en:3-methylglutaconic aciduria (3-mgc)

•

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

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

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

•

en:increased serum lactate (mild)

•

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

•

en:hyponatremia

•

en:decreased serum b12 levels

•

en:decreased beta-oxidation of pristanic acid

•

en:chronic hypoxemia

•

en:very low igm

•

en:serum cortisol elevated

•

en:pipecolic acidemia

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal or decreased serum potassium

•

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

•

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

•

•

en:increased serum fgf23

•

en:increased serum bilirubin due to hemolysis

•

en:increased pyruvate in serum and csf

•

en:hyperbilirubinemia

•

•

en:elevated serum levels of adenosine

•

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

•

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

•

en:decreased serum cholesterol (in some)

•

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

•

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

•

en:alkaline phosphatase decreased

•

en:urine uric acid decreased

•

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

•

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

•

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

•

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

•

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

•

en:no chromosomal breakage

•

en:increased urinary urate

•

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

•

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

•

en:hypoglycemia, intermittent

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

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

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:protein urine absent

•

en:prolidase deficiency

•

en:plasma aldosterone normal

•

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

•

en:increased fibroblast free sialic acid

•

en:increased bile acid intermediates (dhca and thca)

•

en:hyperthreoninuria

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:elevated mchc

•

en:elevated 17-hydroxyprogesterone

•

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

•

en:serum testosterone level normal

•

en:secondary decreases in complex i and iv activity

•

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

•

en:normal activity of von willebrand factor-cleaving protease

•

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:low serum uric acid

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased serum butyryl carnitine

•

en:increased plasma phospholipids

•

en:increased ferritin

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:elevated 1,25(oh)2 d3

•

en:electrocardiogram abnormal

•

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

•

en:creatine kinase levels may normalize with disease progression

•

en:partial deficiency of factor xi (less common)

•

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

•

en:isovalericaciduria

•

en:increased serum methionine

•

en:iga antiendomysial antibodies (ema)

•

en:galactosemia

•

en:distal xp22.3 segmental monosomy

•

en:decreased serum 18-ohb

•

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

•

en:decreased platelet derived growth factor

•

en:decreased beta-glucosidase protein and activity

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:increased prevalence among the native american lumbee indians

•

en:immunoglobulin antibodies present

•

en:igg, decreased

•

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

•

en:defective mitochondrial respiratory enzyme activity

•

en:decreased cpt1 activity

•

en:complex organic aciduria

•

en:anomalies of cholesterol levels

•

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

•

en:partial deficiency of factor xi(c)

•

en:normal to prolonged bleeding time

•

en:metabolic acidosis

•

•

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

•

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

•

en:impairment of urinary concentration

•

en:i-cell disease

•

en:hypoalbuminemia (in 83%)

•

en:hyperprolinemia (5-10 times normal)

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:high plasma triglyceride levels

•

en:decreased serum thiamine pyrophosphate

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:decreased glycerol kinase activity

•

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

•

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

•

en:chromosomal mosaicism in cultured cells

•

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

•

en:abnormal transferrin isoelectric focusing (ief)

•

en:very low igg

•

en:thyroid hormone organification defect

•

en:subsarcolemmal pleomorphic mitochondria on em

•

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

•

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

•

en:serum pristanic acid increased

•

en:serum folate low

•

en:serum cholesterol low or normal

•

en:schirmer test shows alacrima

•

en:rheumatoid factor negative

•

•

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

•

•

en:protein total decreased

•

•

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

•

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

•

en:pancreatic trypsinogen deficiency

•

en:no c8 antigen detected

•

en:normal tyrosinase

•

en:normal to slightly elevated plasma cholesterol

•

en:normal to increased plasma glycine

•

en:normal serum cobalamin (vitamin b12)

•

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

•

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

•

en:normal or increased serum phosphate

•

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

•

en:normal free urinary cortisol

•

en:normal csf 5-hiaa

•

en:neutrophilia, both basal and during infections

•

en:multiple autoantibodies

•

en:mucopolysaccharidosis type iiid

•

en:mild to moderate hyperammonemia

•

en:methemoglobin concentration 12 to 19%

•

en:median mean platelet volume (mpv) 18fl

•

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

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:low or undetectable c-peptide

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low csf creatine

•

en:low acth level

•

en:lactic acidosis

•

en:iron overload (in some patients)

•

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

•

en:iodide organification defect

•

en:increased urine oligosaccharides

•

en:increased urinary thymine

•

en:increased urinary s-sulfocysteine

•

en:increased urinary excretion of camp

•

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

•

en:increased urinary creatine

•

en:increased urinary 2-oxoglutaric acid

•

en:increased susceptibility to ebv infection

•

en:increased serum thymidine

•

en:increased serum s-adenosylhomocysteine

•

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

•

en:increased serum creatine kinase (patient a)

•

en:increased serum bile acids

•

en:increased serum beta-hexosaminidase

•

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

•

en:increased serum and csf glycine

•

en:increased serum alanine

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased peripheral blood monocytes

•

en:increased lysine in serum and csf

•

en:increased intracellular fmrp mrna

•

en:increased igm level

•

en:increased gamma-interferon

•

en:increased excretion of urobilinogen

•

en:increased csf pyruvic acid

•

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

•

en:increased cellular sensitivity to uv light

•

en:immunoreactive pc protein

•

en:hyperoxaluria

•

en:hyperornithinemia

•

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

•

en:high plasma asparagine

•

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

•

en:glucose-6-phosphate deficiency

•

en:galactosuria

•

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

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:fasting chylomicronemia

•

en:excessive iodide trapping

•

en:elevated urinary pge(2) levels

•

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

•

en:elevated sweat chloride (some)

•

en:elevated serum long-chain fatty acids

•

en:elevated plasma citrulline (citrullinemia)

•

en:elevated plasma campesterol

•

en:elevated liver transaminases

•

en:elevated hepatic transaminases

•

en:elevated erythrocyte aicar (zmp)

•

en:elevated ammonia

•

en:elevated 8(9)-cholestenol

•

en:decreased udp-glcnac

•

en:decreased serum trypsinogen

•

en:decreased serum igm

•

en:decreased serum factor i (atypical hus)

•

en:decreased serum ceruloplasmin

•

en:decreased plasma zinc levels

•

en:decreased or normal plasma insulin

•

en:decreased or absent steroid sulfatase activity

•

en:decreased mitochondrial complex iii activity in muscle

•

en:decreased galactokinase activity

•

en:decreased fbp1 enzyme activity

•

en:decreased csf folate

•

en:decreased ciliary motility

•

en:decreased axonal flare response after intradermal histamine injection

•

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

•

en:decreased agt activity

•

en:decreased activity of nadph oxidase

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:decreased activity of mitochondrial complex i

•

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

•

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

•

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

•

en:continuous urinary iodine loss

•

en:characteristic urinary coproporphyrin pattern (mostly isomer i (80%) instead of isomer iii)

•

en:bicarbonaturia

•

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

•

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

•

en:argininosuccinic aciduria

•

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

•

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

•

en:alanine aminotransferase increased

•

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

•

en:acylglycinuria

•

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

•

en:absence of cpt ii protein

•

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

•

en:abnormal phospholipid profile

•

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

•

en:vitamin d deficiency

•

en:variable defects of inner dynein arms

•

en:urocanase deficiency

•

en:urine osmolarity decreased

•

en:urinary prostaglandin e

•

en:undetectable serum arginine vasopressin, or antidiuretic hormone (adh, avp, 192340)

•

en:tyrosine loss

•

en:tsh decreased

•

en:transferase deficiency galactosemia

•

en:thyroid peroxidase defect

•

en:thymic hormone decreased

•

en:shortened metaphase

•

en:serum creatine kinase may be increased

•

en:serum complement decreased

•

en:serum cholesterol normal

•

en:serum calcitonin, increased

•

en:serum bicarbonate increased

•

en:reduced erythrocyte gs activity

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:pyruvic acidemia

•

en:peroxisome deficiency

•

en:pentagastrin stimulation test

•

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

•

en:normal plasma renin

•

en:normal parathyroid hormone (female)

•

en:normal lysyl oxidase activity

•

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

•

en:normal cd8+/cd4+ ratio

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

en:myoglobinuria (reported in 1 patient)

•

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

•

en:methylenetetrahydrofolate reductase deficiency

•

en:low urinary orotic acid

•

en:low or absent growth hormone (gh)

•

en:low csf creatinine

•

en:low-to-normal csf lactate

•

en:long-chain dicarboxylic aciduria

•

•

en:indirect bilirubin increased

•

en:increased very-long chain fatty acids

•

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

•

en:increased urinary ketones

•

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

•

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

•

en:increased urinary carnitine

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:increased tissue long-chain acylcarnitines

•

en:increased serum lactate (in some patients)

•

en:increased serum acylcarnitines

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:increased plasma pristanic acid

•

en:increased nasal-potential difference (some)

•

en:increased il-6

•

en:increased igg level

•

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

•

en:increased ck-mb

•

en:increased 11-deoxycorticosterone

•

en:impaired n-glycosylation

•

en:immotile or weakly motile cilia

•

en:hypophosphatemia (less common)

•

en:hypokalemia occurs during paralytic attacks

•

en:hypertriglyceridemia, transient

•

en:hyperphenylalaninemia

•

en:hyperlipoproteinemia type iib

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:hyperglycinemia

•

en:hypercholesterolemia

•

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

•

en:hypercalciuria (in some patients)

•

en:high sweat electrolyte

•

en:gonadotrophin increased

•

en:glyoxalase deficiency

•

en:glycogen accumulation in both liver and muscle

•

en:galactosyltransferase i deficiency in fibroblasts

•

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

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

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

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

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

•

en:elevated lathosterol

•

en:elevated 8-dehydrocholesterol

•

en:elevated 3-hydroxypropionic acid

•

en:electrolyte disturbances from intractable diarrhea

•

en:echocardiogram abnormal

•

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

•

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

•

en:deficiency of serum properdin p factor

•

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

•

en:defect in n- and o-glycosylation

•

en:defect in chylomicron secretion

•

en:decreased tetrasialo-transferrin

•

en:decreased testosterone level

•

en:decreased serum thyroxine (t4)

•

en:decreased serum leptin

•

en:decreased serum iga

•

en:decreased serum bun

•

en:decreased serum androgens

•

en:decreased scad activity

•

en:decreased plasma apolipoprotein c-ii

•

en:decreased phk activity in liver

•

en:decreased mucosal alkaline phosphatase

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

en:decreased intracellular fmr protein

•

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

•

en:decreased csf pyridoxal

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:decreased beta-thromboglobulin

•

en:decreased activity of tyrosine hydroxylase

•

en:decreased activity of phosphoglycerate kinase 1

•

en:decreased activity of complement factor d

•

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

•

en:creatine phosphokinase serum increased

•

en:citrullinemia

•

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

•

en:chromosomal rearrangement

•

en:cholesterol low

•

en:cd4+/cd8+ ratio is reversed

•

en:azoospermia/oligospermia (present at diagnosis)

•

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

•

en:alpha-fetoprotein normal

•

en:abnormal n-glycosylation of transferrin

•

en:abnormal liver enzymes (in some patients)

•

en:abnormal liver enzymes, intermittent (1 patient)

•

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

•

en:abnormally low cerebrospinal fluid cystatin c

•

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

•

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

•

en:undetectable plasma dbh activity

•

•

en:translocation of chromosomes 9 and 13

•

en:transient neonatal hypocalcemia (2p21del)

•

en:systemic accumulation of very long chain fatty acids (vlcfa)

•

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

•

en:some cilia show abnormal beating patterns or immotility

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum phosphate concentration below normal

•

en:serum ferritin hyperglycosylation

•

en:serum c-reactive protein may be increased

•

en:serum and csf lactate may be increased

•

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

•

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

•

en:reduced erythrocyte glucose/hexose transport

•

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

•

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

•

en:raised c-reactive protein

•

en:prothrombin time increased

•

en:prolonged partial thromboplastin time (ptt)

•

en:polymorphonuclear leukocytosis, episodic

•

en:platelet glycoprotein iiia deficiency

•

en:platelet factor 4 decreased

•

•

en:persistent ebv viremia

•

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

•

en:parathyroid hormone normal

•

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

•

en:organic aciduria

•

en:occasional hypomagnesemia

•

en:no dicarboxylic aciduria

•

en:normal transferrin isoelectric profile

•

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

•

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

•

en:normal serum parathyroid hormone (pth)

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:normal igg levels

•

en:normal csf neurotransmitters

•

en:normal concentration of parathyroid hormone

•

en:nephrotic syndrome

•

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

•

en:mild hyperammonemia

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:mild-moderate prolonged bleeding time

•

en:microsomal hmg-coa reductase decreased

•

en:median mean platelet volume 13fl

•

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

•

en:low serum calcium

•

en:low 25-oh-vitamin d level

•

en:liver function tests normal

•

en:lactic acidemia

•

en:karyomegaly may be found in other visceral organs

•

en:interstitial or terminal deletion of 18q

•

en:intermittent ethylmalonic aciduria

•

en:increased urinary succinic acid

•

en:increased urinary methylcitrate

•

en:increased urinary hga

•

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

•

en:increased urinary and serum glycine

•

en:increased urinary adenosine

•

en:increased urinary 7-biopterin (primapterin)

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased transferrin saturation (>60%)

•

en:increased total bilirubin may occur

•

en:increased serum manganese

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased interferon-alpha signal

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:increased csf protein

•

en:increased csf interferon

•

en:increased csf and plasma gaba

•

en:increased 11-deoxycortisol

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:impaired creatine uptake in fibroblasts

•

en:hyposialylation of o-linked serum glycans

•

en:hypogammaglobulinemia, profound

•

en:hyperthreoninemia

•

en:hyperkalemia

•

en:hypercalcemia

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:hemizygous deletion at 7q11.23

•

•

en:gm2-ganglioside accumulation

•

en:glycosuria (less common)

•

en:glutathione deficiency

•

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

•

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

•

en:gamma-glutamylcysteine deficiency

•

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

•

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

•

en:epstein-barr viraemia

•

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

•

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

•

en:elevated serum iron and iron binding capacity

•

en:elevated progesterone

•

en:elevated plasma levels of lp(a)

•

en:elevated plasma estrogen

•

en:elevated liver enzymes

•

en:elevated csf glycine

•

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

•

en:electrolyturia (1 patient)

•

en:disseminated intravascular coagulation

•

en:disorganized growth plate cartilage

•

en:deficient fibroblast aicar-tf activity

•

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

•

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

•

en:deficiency of laminin in basement membranes

•

en:decreased urinary excretion of uromodulin

•

en:decreased tissue total and free carnitine

•

en:decreased serum cobalamin

•

en:decreased plasma serine

•

en:decreased levels of plasma factor viii in patients with type 2n

•

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

•

en:decreased fibroblast iduronate sulfatase

•

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

•

en:decreased decr enzyme activity

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:cytogenetic deletion of chromosome 19q13

•

en:csf pleocytosis, particularly of lymphocytes

•

en:cilia may also be static, with slow activity

•

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

•

en:antiphospholipid antibody

•

en:aminoaciduria (1 patient)

•

en:alkaline phosphatase normal

•

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

•

en:accumulation of cholesterol esters in various tissues

•

en:absent 7-dehydrocholesterol

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:absence of cd59 expression on red cells

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

en:urinary excretion of mucopolysaccharides

•

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

•

en:translocation between 18q21 and 14q32

•

en:transient eosinophilia in first decade

•

en:thyroid hormones increased

•

en:thrombocytopenia

•

en:skewed x-inactivation in females

•

en:severe hypernatremia in neonatal period

•

en:serum triglycerides increased

•

en:serum transaminase increased

•

en:serum osmolality decreased

•

en:serum creatine kinase may be normal or elevated

•

en:rhabdomyolysis in response to alcohol

•

en:reticulocyte count increased

•

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

•

en:premature chromosome condensation

•

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

•

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

•

en:no metabolic abnormalities

•

en:no cartilage staining with toluidine blue

•

en:normal serum cobalamin

•

en:normal serum 25-hydroxyvitamin d3

•

en:normal prolyl 4-hydroxylase activity

•

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

•

en:normal liver histology

•

en:normal igm levels

•

en:normal extrarenal responses to ddavp administration

•

en:normal blood lactate

•

en:normal 46,xy karyotype

•

en:myoglobinuria after exertion (in some patients)

•

en:myoglobinuria

•

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

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

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

•

en:mild elevation of transaminases

•

en:low rai (radioactive iodine) uptake

•

en:low or absent thyrotropin (tsh)

•

en:low fasting glucose (in some patients)

•

en:keratan sulfaturia in some patients

•

en:infantile hypophosphatasia

•

en:increased urine porphyrins at times

•

en:increased urinary n-acetylated amino acids

•

en:increased urinary mannose-containing oligosaccharides

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:increased urinary 3-oh-propionic acid

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased tissue levels of free fatty acids

•

en:increased serum lysine (group b)

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:increased renal tubular phosphate reabsorption

•

en:increased pristanic acid

•

en:increased plasma homogentisic acid (hga)

•

en:increased long-chain acylcarnitine

•

en:increased lactate: pyruvate ratio (group b)

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:increased di- and asialo-transferrin

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:increased csf taurine

•

en:increased csf and plasma ghb

•

en:increased biopterin in urine and csf

•

en:increased 18-hydroxycortisol

•

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

•

en:inappropriately normal or increased plasma hepcidin

•

en:hyponatremia in infancy

•

en:hypocalciuria or normocalciuria

•

en:homocystinuria (in some patients)

•

en:hematuria, macroscopic and microscopic

•

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

•

en:glomerular filtration rate decreased

•

en:gaucher disease, type 1

•

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

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:exercise-induced myoglobinuria in adults

•

en:elevated white blood cell cystine

•

en:elevated urinary phosphoethanolamine

•

en:elevated urinary mevalonic acid

•

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

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated inflammatory markers

•

en:elevated 7-dehydrocholesterol

•

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

•

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

•

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

•

en:defect in retrograde intraflagellar transport in cilia

•

en:decreased serum luteinizing hormone (lh)

•

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

•

en:decreased plasma esterified cholesterol

•

en:decreased plasmalogens

•

en:decreased or normal serum c3

•

en:decreased or absent udp-glucuronyl-transferase activity

•

en:decreased levels of plasma factor viii

•

en:decreased fumarate hydratase activity

•

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

•

en:decreased csf hypocretin

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

en:decreased acetyl-coa carboxylase activity

•

en:cerebrospinal fluid oligoclonal bands

•

en:cell studies show increased dna breakage

•

en:aprt deficiency measured in erythrocyte lysate

•

en:antithrombin iii deficiency

•

en:antiribonuclear protein positive

•

en:aneuploidy of the x chromosome

•

en:aminoaciduria (rare)

•

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:absence of chylomicrons in lymph and plasma

•

en:abnormal cholesterol homeostasis

•

en:4-hydroxyphenyllactic aciduria

•

en:4-hydroxyphenylacetic aciduria

•

en:xanthine nephrolithiasis

•

en:vitamin k deficiency

•

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

•

en:urine cortisol, increased

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:type 1 collagen overmodification

•

en:transferrin saturation increased

•

en:thyroid dyshormonogenesis 3

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:serum transferrin glycosylation is normal

•

en:serum mitochondrial autoantibodies

•

en:serum homocysteine normal

•

en:serum carnitine deficiency

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:reduced igg levels, particularly igg2 subclass

•

en:premature separation of centromeric heterochromatin

•

en:pms show deficient oxidation of debrisoquine

•

en:pipecolic acid accumulation.

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:phosphaturia may disappear after a long period of time

•

en:patient cells show increased chromosome breakage

•

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

•

en:partial deficiency of factor xiii (less common)

•

en:paraproteinemia

•

en:no evidence of perinatal infection

•

en:normal urinary cyclic amp response to pth administration

•

en:normal serum folate levels

•

en:normal serum biotin concentration

•

en:normal renin level

•

en:normal phytanic acid

•

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

•

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

•

en:normal baseline cortisol

•

en:normal-elevated plasma testosterone (male range)

•

en:n-glycosylation defect

•

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

•

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

•

en:monomeric igm

•

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

•

en:mild elevation of triglycerides

•

en:mildly increased serum lactate

•

en:microdeletion 22q11.2

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:lysine-ketoglutarate reductase deficiency

•

en:low plasma tryptophan (inflammatory type b)

•

en:low or absent iga levels

•

en:low density lipoprotein increased

•

en:low apolipoprotein

•

en:low-molecular-weight proteinuria

•

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

•

en:long-chain ketonuria

•

en:lack of ciliary motility

•

en:ketoacidosis

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary o-linked sialopeptides

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased tissue long-chain fatty acids

•

en:increased serum ige

•

en:increased serum iduronate sulfatase

•

en:increased serum glycerol

•

en:increased serum ferritin (in some patients)

•

en:increased serum creatine kinase (1 family)

•

en:increased serum citrulline (group b)

•

en:increased plasma pipecolic acid

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased disialotransferrin and asialotransferrin levels

•

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

•

en:increased creatine kinase (ck)

•

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

•

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

•

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

•

en:hypoglycemia

•

en:hypocalcemia (64% of adults)

•

en:hypertriglyceridemia (in some patients)

•

en:hypercholesterolemia (disorder)

•

en:hla-dqw6 association (dqb1*0602)

•

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

•

en:hb h erythrocyte inclusions

•

en:fibronectin decreased

•

en:eosinophilia

•

en:elevated urinary 3-methylglutarate

•

en:elevated long chain fatty acids

•

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

•

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

•

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

•

en:elevated androstenedione and testosterone

•

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

•

en:dyslipidemia

•

en:deficiency or absence of p91-phox protein

•

en:defect in oxidative phosphorylation

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased plasma arginine

•

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

•

en:decreased ldl cholesterol

•

en:decreased csf arginine

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased clot retraction

•

en:decreased cerebrospinal fluid folic acid

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:decreased adenosylcobalamin

•

en:decreased activity of ppt1

•

en:decreased activity of 2-oxoacid dehydrogenases

•

en:decreased acid beta galactosidase protein and activity

•

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

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

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

•

en:carnitine palmitoyltransferase ii deficiency (25% of controls)

•

en:borderline elevated low-density lipoprotein

•

en:atrial abnormalities on electrocardiogram

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:anti-ssb positive

•

en:alpha ketoadipic aciduria

•

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

•

en:aldosterone level increased above normal

•

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

•

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

•

en:abnormal oral glucose tolerance

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

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

•

en:variable hypoglycemia

•

en:unresponsive to acth stimulation

•

en:undetectable urinary hypoxanthine

•

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

•

en:submucosal macrophages filled with sphingolipids

•

en:sterol 27-hydroxylase deficiency

•

en:some cilia show central complex and radial spoke defects

•

en:sialylation defects

•

en:serum iron raised

•

en:serum alkaline phosphatase normal or mildly increased

•

en:reduced platelet glycoprotein ib complex

•

en:reduced bending capacity of cilia

•

en:prolonged prothrombin and partial thromboplastin times

•

en:presence of vacuoles on muscle biopsy

•

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

•

en:osteocalcin increased

•

en:normal serum erythropoietin (epo, 133170)

•

en:normal or increased serum creatine kinase

•

en:normal ciliary structure and function

•

en:lysosomal-like storage vacuoles in various tissues

•

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

•

en:low serum cortisol

•

en:low or normal serum calcium

•

en:low maximal oxygen uptake on exercise testing

•

en:low leukocyte alkaline phosphatase activity

•

en:leukotriene c4 synthetase deficiency

•

en:intracellular accumulation of unesterified cholesterol

•

en:intermittent increase of urinary ethylmalonic acid

•

en:increased urinary thiosulfate

•

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

•

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

•

en:increased serum s-adenosylmethionine

•

en:increased serum pyruvate, mild

•

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

•

en:increased serum glutamine

•

en:increased serum direct bilirubin

•

en:increased serum creatine kinase during episodes

•

en:increased serum beta-carotene

•

en:increased serum and csf lactate

•

en:increased plasma phytanic acid

•

en:increased plasma free cholesterol

•

en:increased plasma and urinary pipecolic acid

•

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

•

en:increased fas ligand

•

en:increased erythropoietin

•

en:increased disialo- and asialotransferrin

•

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

•

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

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

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

•

en:igm deficiency

•

en:hypoketotic hypoglycemia

•

en:hypokalemia during attacks

•

en:hypoglycosylation of plasma glycoproteins

•

en:hyperoxalaemia

•

en:hyperkalemia during attacks

•

en:hypercholesterolemia (10%)

•

en:hyperammonemia

•

en:holocarboxylase synthetase deficiency

•

en:high urinary orotic acid

•

en:hepatic glycine cleavage defect

•

en:hawkinsinuria

•

en:generalized amyloid deposition

•

en:fibroblasts attach poorly

•

en:elevated plasma desmosterol

•

en:elevated liver function tests

•

en:elevated erythrocyte adenosine deaminase activity

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:dilated rough endoplasmic reticulum (rer)

•

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

•

en:decreased urinary calcium and phosphate excretion

•

en:decreased tissue and serum alkaline phosphatase

•

en:decreased serum ferritin

•

en:decreased plasminogen activity

•

en:decreased plasma triglycerides

•

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

•

en:decreased levels of cpt2 protein

•

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

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:decreased b cells

•

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

•

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

•

en:blood urea nitrogen increased

•

en:ballooned neurons

•

en:adenylosuccinase deficiency (finding)

•

en:absent platelet agglutination in presence of ristocetin

•

en:abnormal liver function tests (less common)

•

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

•

en:2-oxoadipic aciduria

•

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

•

en:vitamin b12 deficiency (uncommon)

•

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

•

en:tyrosine iodination defect

•

en:tryptophanuria

•

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

•

en:shortened telomeres (in 1 of 2 patients)

•

en:serum iron normal

•

en:serum creatine kinase may be normal or increased

•

en:serum cortisol decreased

•

en:reduced unsaturated serum cobalamin binding capacity

•

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

•

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

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

•

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

•

en:patient cells show abnormal mitochondrial morphology

•

en:no ketonuria

•

en:normal to mildly increased mucopolysacchariduria

•

en:normal sweat electrolytes

•

en:normal plasma phytanic acid

•

en:normal lysyl hydroxylase activity

•

en:normal exocrine pancreatic function

•

en:normal eosinophil peroxidase activity

•

en:mild elevation of cholesterol

•

en:mildly elevated creatine phosphokinase

•

en:methylmalonic aciduria

•

en:methioninuria

•

en:low to very low hdl cholesterol

•

en:low serum levels of ketone bodies

•

en:low free carnitine

•

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

•

en:isovaleric acidemia

•

en:increased urinary organic acids (in some patients)

•

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

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased urinary 2-butanone

•

en:increased serum triglycerides (in some patients)

•

en:increased serum lactate during metabolic crisis

•

en:increased serum gamma-ggt (231950)

•

en:increased serum erythropoietin (epo, 133170)

•

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

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased prv-1 (162860) mrna

•

en:increased plasma vldl, ldl

•

en:increased plasma proinsulin

•

en:increased plasma lactate

•

en:increased lactate in spinal fluid

•

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

•

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

•

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

•

en:inappropriately low urine osmolality

•

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

•

en:hypoproteinemia (in 1 patient)

•

en:hyponatremic dehydration, rarely

•

en:hypoglycosylated serum transferrin

•

en:hypocalciuria

•

en:hypoalphalipoproteinemia

•

en:hydrocortisone decreased

•

en:homocystinuria

•

en:homocitrullinuria

•

en:high sister chromatid exchange (sce) rate

•

en:high serum inosine levels

•

en:high ebv viral load

•

en:hepatic gamma-cystathionase deficiency

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

•

en:fibroblasts show increased sensitivity to apoptosis

•

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

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846464 • caches: c1=8 c2=1003 c3=1

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