Le Diko - en:abnormal liver enzymes (1 patient)

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Le Diko - en:abnormal liver enzymes (1 patient)

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en:abnormal liver enzymes (1 patient)

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:serum iron normal

•

•

en:orotic acid crystalluria

•

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

•

en:absent 7-dehydrocholesterol

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:elevated liver function tests

•

en:elevated serum transferrin saturation

•

en:high plasma triglyceride levels

•

en:high urinary orotic acid

•

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

•

en:normal maltase, isomaltase, and sucrase activity

•

en:increased csf and plasma ghb

•

en:pcs involves most of all chromosomes of a metaphase

•

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

•

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

•

en:normal renin level

•

en:presence of pc mrna

•

en:elevated serum long-chain fatty acids

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:increased csf interferon

•

en:decreased beta-galactosidase activity

•

en:cystathioninuria (lab finding)

•

en:abnormal columnization of chondrocytes

•

en:urocanase deficiency

•

en:some cilia show central complex and radial spoke defects

•

en:serum phosphate normal

•

en:defective mitochondrial respiratory enzyme activity

•

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

•

en:accumulation of cholesterol esters in various tissues

•

en:cerebrospinal fluid lymphocytosis

•

en:increased fibroblast free sialic acid

•

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

•

en:orotic aciduria

•

en:positive urine dnph screening test

•

en:abetalipoproteinemia (lab finding)

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:antiribonuclear protein positive

•

en:elevated acth

•

en:increased serum citrulline (group b)

•

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

•

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

•

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

•

en:increased urinary sulfatide excretion

•

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

•

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

•

en:homocystinuria

•

en:cog6-cdg (cdg-iil)

•

en:homocysteinemia (in some patients)

•

en:hypercalcemia

•

en:increased csf lactate during acute episodes

•

en:low serum alkaline phosphatase in heterozygotes

•

en:low fasting glucose (in some patients)

•

en:low-to-normal csf lactate

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:elevated urinary mevalonic acid

•

en:hyponatremia in infancy

•

en:excessive urinary 5-oxo-l-proline

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated il1-beta

•

en:prolonged partial thromboplastin time

•

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

•

en:deficiency or absence of p91-phox protein

•

en:aminoaciduria (rare)

•

en:low or absent follicle stimulating hormone (fsh)

•

en:elevated serum protein

•

en:serum lactate is usually normal

•

en:normal csf 5-hiaa

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:transient hyperlipidemia

•

en:inner and outer dynein arm defects, variable

•

en:increased serum ferritin (in some patients)

•

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

•

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

•

en:gm2-ganglioside accumulation

•

en:increased serum bile acid concentration during pregnancy, resolves postpartum

•

en:abnormal cholesterol homeostasis

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:decreased axonal flare response after intradermal histamine injection

•

en:decreased whole blood serotonin

•

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

•

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

•

en:hyperglycemia

•

en:hyperphosphatemia, transient

•

en:hypertriglyceridemia, transient

•

en:thyroid dyshormonogenesis 4

•

en:oligospermia or azoospermia

•

en:decreased serum alpha-2 macroglobulin levels

•

en:reactive hypoglycemia

•

en:increased serum bilirubin (in some patients)

•

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

•

en:near-complete absence of vldl peak on density gradient ultracentrifugation (in some patients)

•

en:decreased acetyl-coa carboxylase activity

•

en:absent ch50 activity in complete c4 deficiency

•

en:widespread interstitial fibrosis (visceral organs)

•

en:normal apoa-ii levels in homozygotes

•

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

•

en:partial deficiency of factor xi(c)

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

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

•

en:fasting ketosis

•

en:increased 18-hydroxycortisol

•

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

•

en:increased urinary excretion of coproporphyrin i

•

en:low or absent thyrotropin (tsh)

•

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

•

en:low to normal plasma methionine

•

en:elevated il6

•

en:glycoamino aciduria

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary excretion of camp

•

•

en:n-glycosylation defect

•

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

•

en:serum cholesterol low or normal

•

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

•

en:fibroblasts are small and rounded with prominent nucleoli

•

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

•

en:serum transaminase increased

•

en:intermediate level of cellular sensitivity to uv light

•

en:serum cortisol elevated

•

en:low csf creatinine

•

en:decreased dermal hydroxylysine content

•

en:increased urinary n-acetylated amino acids

•

en:elevated plasma desmosterol

•

en:elevated erythrocyte adenosine deaminase

•

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

•

en:distal xp22.3 segmental monosomy

•

en:serum testosterone decreased

•

en:hyperglycemias, postprandial

•

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

•

en:methemoglobin concentration 12 to 19%

•

en:normal serum biotin concentration

•

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

•

en:elevated erythrocyte adenosine deaminase (eada)

•

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

•

en:normal lysl hydroxylase activity

•

en:march myoglobinuria

•

en:increased serum ige

•

en:increased csf glycine

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:elevated gastrin concentration

•

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

•

en:elevated androstenedione

•

en:elevated cerebrospinal fluid (csf) protein

•

en:elevated pregnenolone

•

en:elevated serum bile acids

•

en:methylenetetrahydrofolate reductase deficiency

•

en:n-acetylgalactosamine-6-sulfatase deficiency in fibroblasts and leukocytes

•

en:normal serum cobalamin

•

en:affected mother has normal plasma zinc levels and is not zinc-deficient

•

en:decreased serum 25-hydroxyvitamin d

•

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

•

en:globulin gamma serum plasma increased result

•

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

•

en:normal serum complement levels

•

en:generalized amyloid deposition

•

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

•

en:hypoglycemia, fasting

•

en:hyperglycinemia

•

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

•

en:absence of cd59 expression on red cells

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:abnormal phospholipid profile

•

en:peroxisome deficiency

•

en:myoglobinuria

•

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

•

en:prolonged activated partial prothrombin time (appt)

•

en:increased cholesterol

•

en:reduced ige levels

•

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

•

en:mildly elevated creatine phosphokinase

•

en:low plasma methionine

•

en:increased serum lactate (mild)

•

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

•

en:elevated plasma citrulline (citrullinemia)

•

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

•

en:cytoplasmic lamellar inclusions consistent with neuronal ceroid lipofuscinosis (in some patients)

•

en:blood glucose normal

•

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

•

en:mild to moderate thrombocytopenia (40-120 x 10(9)/l)

•

•

en:lactate dehydrogenase increased

•

en:low urinary cyclic amp response to pth administration

•

en:lysosomal-like storage vacuoles in various tissues

•

en:mildly elevated hepatic enzymes

•

en:neutral hyperaminoaciduria

•

en:mitochondrial deletions

•

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

•

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

•

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

•

en:nadh-cytochrome b(5) reductase deficiency

•

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

•

en:isovalerylglycinuria

•

en:increased urinary 2-alpha-ketoglutaric acid

•

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

•

en:increased urinary uracil

•

en:increased urinary potassium

•

en:increased urinary ketones

•

en:increased urinary homovanillic acid (hva)

•

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

•

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

•

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

•

en:increased soluble il2 receptor

•

en:increased serum vitamin b12

•

en:increased serum transferrin

•

en:increased serum parathyroid hormone (pth)

•

en:increased serum osteocalcin

•

en:increased serum lactate hydrogenase

•

en:increased serum ferritin

•

en:normal aldosterone

•

en:no increased sensitivity to oxidative species

•

en:normal liver histology

•

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

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:absence of chylomicrons in lymph and plasma

•

en:abnormal urinary compounds

•

en:abnormal transferrin isoelectric focusing (ief)

•

en:abnormal liver function tests (less common)

•

en:abnormal liver enzymes (in some patients)

•

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

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:variable hypoglycemia

•

en:thymic hormone decreased

•

en:sweat test normal

•

en:submucosal macrophages filled with sphingolipids

•

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

•

en:shortened telomeres (classic feature, nola3 patient)

•

en:serum iron raised

•

en:normal or decreased serum potassium

•

en:serum creatine kinase may be normal or elevated

•

en:serum creatine kinase may be increased

•

en:serum cholesterol normal

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:rhabdomyolysis in response to alcohol

•

en:reticulocyte count increased

•

en:pseudohypertriglyceridemia in adult form

•

en:propionic acidemia

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:pentagastrin stimulation test

•

en:increased serum and csf lactate

•

en:normocalcemia

•

en:normal serum erythropoietin (epo, 133170)

•

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

•

en:increased serum creatine kinase, mild

•

en:hypercholesterolemia

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:androgens increased

•

en:decreased or normal serum factor i

•

en:decreased levels of the e2 subunit protein

•

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

•

en:decreased cortisol-binding globulin

•

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

•

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

•

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

•

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

•

en:cytoplasmic lamellar concentric inclusions

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

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

•

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

•

en:borderline elevated low-density lipoprotein

•

en:bilirubin may or may not be increased

•

en:alpha ketoadipic aciduria

•

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

•

en:aldosterone level increased above normal

•

•

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

•

en:absent anti-insulin receptor antibodies

•

en:absence of cpt ii protein

•

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

•

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

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:abnormal acylcarnitine profiles

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:3-methylglutaric aciduria (3-mga)

•

en:2-oxoadipic aciduria

•

en:aldosterone concentration below normal

•

en:decreased serum ferritin

•

en:decreased switched memory b cells

•

en:increased levels of 3-alpha-7-alpha-12-alpha-trihydroxy-5-beta-cholestanoic acid (thca) in bile, urine, and serum

•

en:foam cells in bone marrow and renal glomeruli

•

en:increased creatine kinase, mild to moderate

•

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

•

en:hypoalbuminemia (in 83%)

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:hydroxyprolinuria

•

en:hepatic argininosuccinase deficiency

•

en:hemoglobin decreased

•

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

•

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

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

•

en:glutaric aciduria

•

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

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

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

•

en:decreased tissue and serum alkaline phosphatase

•

en:fibroblasts attach poorly

•

en:exercise-induced myoglobinuria in adults

•

en:elevated urinary 3-methylglutaconate

•

en:elevated serum phosphorus

•

en:elevated serum parathyroid hormone (pth) level

•

en:elevated mchc

•

en:elevated lathosterol

•

en:elevated erythrocyte sedimentation rate (esr)

•

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

•

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

•

en:dyskinetic ciliary motility

•

en:direct hyperbilirubinemia

•

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

•

en:defective glcnac-pi synthesis

•

•

en:defective dna repair after ultraviolet radiation damage

•

en:alpha-fetoprotein normal

•

en:increased serum pyruvate

•

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

•

en:low or undetectable c-peptide

•

en:low or normal serum erythropoietin

•

en:low or low-normal serum t4

•

en:low free carnitine

•

en:low-molecular-weight proteinuria

•

en:long-chain ketonuria

•

en:isovaleric acidemia

•

en:intermittent 3-methylglutaconic aciduria

•

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

•

en:increased urinary creatine

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased thyroid-stimulating hormone (tsh)

•

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

•

en:increased serum lactate, particularly after exercise

•

en:markedly reduced igg levels

•

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

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased histidine in blood, urine, and csf

•

en:increased csf homovanillic acid (hva)

•

en:increased blood alanine

•

en:inappropriately low urine osmolality

•

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

•

en:impaired platelet aggregation

•

en:hyposialylation of o-linked serum glycans

•

en:hypocalciuria

•

en:hypertryptophanemia

•

en:hyperprolinemia type 1

•

en:hyperoxaluria

•

en:hyperlipoproteinemia type i

•

en:low to low-normal magnesium

•

en:methylglutaconic aciduria, mild

•

en:hypercholesterolemia (disorder)

•

en:premature separation of centromeric heterochromatin

•

en:very low density lipoprotein increased

•

en:variable hyperlipidemia

•

en:urine odor, maple syrup

•

en:urine cortisol, increased

•

en:thyroid hormone organification defect

•

en:aminoaciduria, mild (in some patients)

•

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

•

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

•

en:spongy degeneration of brain on histology

•

en:serum transferrin glycosylation is normal

•

en:serum cortisol decreased

•

en:schirmer test shows alacrima

•

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

•

en:raised c-reactive protein

•

en:postprandial hyperglycemia (early in disease course)

•

en:microdeletion 22q11.2

•

en:platelet factor 4 decreased

•

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

•

en:paraproteinemia

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:no chromosomal breakage

•

en:normal serum lipoprotein levels

•

en:normal or mildly reduced sphingomyelinase activity

•

en:normal free urinary cortisol

•

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

•

en:normal csf neurotransmitters

•

en:mucopolysaccharidosis type iiid

•

en:mild to moderate hyperammonemia

•

en:mild elevation of triglycerides

•

en:microsomal hmg-coa reductase decreased

•

en:hypercholesterolemia (reported in 2 patients)

•

en:telomere shortening

•

en:hyperchloridura

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:deletion of chromosome 18p11.2

•

en:decreased uros activity (1 patient)

•

en:decreased urinary sulfate

•

en:decreased urinary excretion of uromodulin

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:decreased plasma free carnitine

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:decreased levels of certain coagulation factors

•

en:decreased ldl cholesterol

•

en:decreased insulin receptor binding

•

en:decreased grhpr activity

•

en:decreased glutamine in bodily fluids

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:decreased decr enzyme activity

•

en:elevated 1,25(oh)2 d3

•

en:decreased csf folate

•

en:decreased copper, iron, zinc

•

en:decreased circulating cortisol level

•

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

•

en:decreased activity of complement factor d

•

en:decreased activities of multiple sulfatases

•

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

•

en:chromosomal mosaicism in cultured cells

•

en:blood urea nitrogen increased

•

en:biotinidase deficiency

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:antithrombin iii deficiency

•

en:hydrocortisone decreased

•

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

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

en:elevated alkaline phosphatase (in one patient)

•

en:elevated urinary epinephrine

•

en:elevated ammonia

•

en:high plasma asparagine

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:hepatic gamma-cystathionase deficiency

•

en:granular osmiophilic deposits (grod) in cells

•

en:glycogen storage disease type v

•

en:glutaric acidemia type 1

•

en:galactosylation defects

•

en:fumarase deficiency

•

en:frequent deletions of chromosome 9 in melanoma

•

en:foam cells in visceral organs and cns

•

en:fibronectin decreased

•

en:epstein-barr viraemia

•

en:eosinophilia

•

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

•

en:elevated urinary and csf 5-amino-4-imidazolecarboxyamide (aica-riboside)

•

en:elevated hepatic transaminases

•

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

•

en:elevated total iron-binding capacity

•

en:elevated androstenedione and testosterone

•

en:elevated csf/plasma glycine ratio

•

en:elevated fibroblast free sialic acid

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:elevated leukotriene e(4)

•

en:elevated plasma alloisoleucine

•

en:elevated plasma campesterol

•

en:elevated serum acid phosphatase

•

en:elevated serum uric acid concentrations

•

en:elevated liver transaminases

•

en:elevated serum phosphate in heterozygotes

•

en:increased urinary orotic acid (in some patients)

•

en:increased urinary 3-methylcrotonylglycine

•

en:increased urinary acetoacetic acid

•

en:increased urinary mannose-containing oligosaccharides

•

en:low serum cortisol

•

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

•

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

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:median mean platelet volume (mpv) 12.5fl

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:microscopic hematuria

•

en:increased serum methionine

•

en:increased il6, episodic

•

en:increased serum lactate (in some patients)

•

en:increased serum lactate

•

en:increased serum creatine kinase (less common)

•

en:increased serum alpha-mannosidase

•

en:increased plasma and urinary pipecolic acid

•

en:increased lactate: pyruvate ratio (group b)

•

en:increased fractional excretion of uric acid

•

en:increased di- and asialo-transferrin

•

en:increased csf taurine

•

en:increased biopterin in urine and csf

•

en:increased bile acid intermediates (dhca and thca)

•

en:increased ammonia with exercise

•

en:impairment of urinary concentration

•

en:increased 11-deoxycorticosterone

•

en:mildly elevated transaminases

•

en:normal to elevated total plasma carnitine

•

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

•

en:platelet count normal

•

en:4-hydroxyphenylactic aciduria

•

en:hypoproteinemia due to hypercatabolism

•

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

•

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

•

•

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

•

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

•

en:thyroid peroxidase defect

•

en:structural abnormalities seen on chromosome analysis

•

en:sterol 27-hydroxylase deficiency

•

en:serum acid phosphatase normal

•

en:reduced erythrocyte adenosine deaminase activity

•

en:polyploid sperm heads

•

en:partial deficiency of factor xiii(c)

•

en:mildly prolonged bleeding time 10-12 minutes

•

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

•

en:normal sedimentation rate

•

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

•

en:normal or increased serum phytanic acid

•

en:normal constitutional karyotype

•

en:normal cd8+/cd4+ ratio

•

en:normal arterial oxygen saturation

•

en:neonatal hypocalcemia

•

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

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:monoclonal gammopathy

•

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

•

en:mild eosinophilia may occur

•

•

en:decreased triiodothyronine level

•

en:hypokalemia occurs during paralytic attacks

•

en:cytogenetic deletion of chromosome 19q13

•

en:decreased serum carnitine in acute stage

•

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

•

en:decreased plasma glycine

•

en:decreased or absent serum citrulline

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:decreased mitochondrial complex iii activity seen in muscle

•

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

•

en:decreased fibroblast beta-hexosaminidase

•

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

•

en:decreased csf pyridoxal

•

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

•

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

•

en:csf pleocytosis, particularly of lymphocytes

•

en:decreased serum iga

•

en:complex organic aciduria

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:blood pyruvic acid increased

•

en:aminoaciduria (less common)

•

en:alanine aminotransferase increased

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

en:absent igg2 subclass

•

en:abnormal urinary organic acids

•

en:abnormal liver function tests (in some patients)

•

en:abnormal liver enzymes in those with hepatic cysts or fibrosis

•

en:abnormal igfr1 function

•

en:3-methylglutaconic aciduria (3-mgc)

•

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

•

en:decreased serum factor h (atypical hus)

•

en:decreased serum vitamin a

•

en:hyperuricemia

•

en:fragmentation of the mitochondrial network

•

en:hyperthreoninuria

•

en:hypercholesterolemia (in 75%)

•

en:hyperchloremia (mean 111 mm)

•

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

•

en:high sweat electrolyte

•

en:high ornithine

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:hemophilia b

•

en:hawkinsinuria

•

en:gonadotrophin increased

•

•

en:glomerular filtration rate decreased

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:deficiency of serum properdin p factor

•

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

•

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

•

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

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:elevated serum iron

•

en:elevated propionate

•

en:elevated plasma ammonia

•

en:elevated hcg (choriocarcinoma)

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated calcitonin

•

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

•

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

•

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

•

en:abacterial leukocyturia

•

en:increased serum pyruvate in acute stage

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:liver transaminases normal to slightly increased

•

en:large spermatozoa

•

en:keratan sulfate excretion in urine that decreases with age

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:increased urinary tricarboxylic acid intermediates

•

en:increased urinary s-sulfocysteine

•

en:increased urinary o-linked sialopeptides

•

en:increased urinary malic acid

•

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

•

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

•

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

•

en:increased urinary carnitine esters

•

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

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased susceptibility to ebv infection

•

en:increased serum serotonin in 25%

•

en:increased serum methionine (reported in 2 cases)

•

en:increased serum manganese

•

en:increased serum lipoproteins

•

en:increased serum beta-hexosaminidase

•

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

•

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

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased plasma proinsulin

•

en:increased plasma lactate

•

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

•

en:low cholesterol esterification rates

•

en:low serum acth

•

en:increased creatine kinase (ck)

•

en:no c8 antigen detected

•

en:abnormal liver function test

•

en:abnormal liver enzymes (in 1 patient)

•

en:shortened telomeres (in 1 of 2 patients)

•

en:serum folate low

•

en:serum cholesterol raised

•

en:round, yellow-brown dha urine crystals

•

en:reduced erythrocyte glucose/hexose transport

•

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:plasma aldosterone increased

•

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

•

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

•

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

•

en:normal serum and mucosal iga

•

en:lysyl hydroxylase deficiency

•

en:normal pyridinoline excretion in urine

•

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

•

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

•

en:normal collagen type i studies

•

en:nephrotic syndrome

•

en:myoglobinuria with extreme exertion

•

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

•

en:moderately decreased to normal phk activity in skeletal muscle

•

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

•

en:mild-moderate prolonged bleeding time

•

en:metachromasia of white blood cells and fibroblasts

•

en:median mean platelet volume (mpv) 18fl

•

en:marked hypobetalipoproteinemia

•

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

•

en:positive urinary bratton-marshall test

•

en:increased bone serum acid phosphatase

•

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

•

en:decreased or normal serum factor b

•

en:decreased or absent histidase activity

•

en:decreased or absent gch1 activity

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

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

•

en:decreased metabolism of thiopurine drugs

•

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

•

en:decreased galactokinase activity

•

en:decreased fibroblast arylsulfatase a

•

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

•

en:decreased dna excision repair

•

en:decreased ciliary motility

•

en:decreased beta-oxidation of pristanic acid

•

en:decreased plasma serine

•

en:decreased aminoacylase-1 activity

•

en:decreased adiponectin

•

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

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:creatine kinase normal between episodes

•

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

•

en:b lymphocytopenia

•

en:bone marrow hypoplasia (in some patients)

•

en:antineutrophil cytoplasmic antibody

•

en:agammaglobulinemia

•

en:absent axonal flare response after intradermal histamine injection

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:decreased phgdh activity (fibroblasts)

•

en:cell studies show increased dna breakage

•

en:decreased plasma zinc levels

•

en:elevated urine unsulfated chondroitin sulfate

•

en:immotile cilia

•

en:hypoproteinemia (in 1 patient)

•

en:decreased s-ado:saicar ratio

•

en:hypoalbuminemia

•

en:hyperlysinemia

•

en:high sister chromatid exchange (sce) rate

•

en:hb h erythrocyte inclusions

•

en:glutathione deficiency

•

en:generalized aminoaciduria

•

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

•

en:ethylmalonic aciduria

•

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

•

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

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:elevated urinary hyaluronic acid levels

•

en:elevated 2-ketoglutarate (urine)

•

en:elevated urinary 2-ethylhydracrylate

•

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

•

•

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

•

en:disseminated intravascular coagulation

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:elevated creatine kinase (in some patients)

•

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

•

en:decreased transferrin increased serum iron

•

en:elevated long chain fatty acids

•

en:elevated pyruvate (in most patients)

•

en:elevated serum iron and iron binding capacity

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

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

•

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

•

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

•

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

•

en:low rai (radioactive iodine) uptake

•

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

•

en:low or absent growth hormone (gh)

•

en:low copper and ceruloplasmin

•

en:loss of heterozygosity in giant cell astrocytomas, angiomyolipomas, rhabdomyomas

•

en:intermittent increase of urinary ethylmalonic acid

•

en:lactate pyruvate ratio normal

•

en:ketoses, metabolic

•

en:ketonuria, acute

•

en:iodine depletion

•

en:indirect bilirubin increased

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increased urinary tiglylglycine

•

en:increased urinary 3-oh-propionic acid

•

en:increased urinary 2-methylbutyryl glycine

•

en:normal parathyroid hormone (female)

•

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

•

en:increased triglycerides (less common)

•

en:normal or mildly decreased arylsulfatase a activity

•

en:urinary excretion of sialylated oligosaccharides

•

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

•

en:congenital disorder of glycosylation type ij

•

en:cilia show inner and outer dynein arm defects

•

en:increased tissue levels of free fatty acids

•

en:chylomicronemia, refractory fasting

•

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

•

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

•

en:accumulation of guanidinoacetate in brain

•

en:absent platelet agglutination in presence of ristocetin

•

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

•

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

•

en:3-methylglutaric aciduria

•

en:urinary prostaglandin e

•

en:normal transferrin saturation

•

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

•

en:transient neonatal hypoglycemia (2p21del)

•

en:serum growth hormone increased

•

en:serum calcitonin, increased

•

en:serum bicarbonate increased

•

en:serum alkaline phosphatase normal or mildly increased

•

en:resistance to 1,25-dihydroxyvitamin d3

•

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

•

en:protein c decreased

•

en:presence of serum anti-lu3 antibodies

•

en:plasmalogen deficiency

•

en:increased total and conjugated bilirubin

•

en:decreased serum 18-ohb

•

en:increased serum pyruvate, mild

•

en:decreased activity of mitochondrial complex i

•

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

•

en:decreased platelet derived growth factor

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:decreased or absent glycogen branching enzyme activity

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:decreased formation of complex (tri-, tetra-antennary) n-glycans

•

en:decreased fibroblast alpha-mannosidase

•

en:decreased csf glycine

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:decreased activity of pyruvate dehydrogenase complex

•

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

•

en:decreased serum iron (in some patients)

•

en:ceruloplasmin decreased

•

en:cellular arrest at g2 of the cell cycle

•

en:cd4+/cd8+ ratio often reversed

•

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

•

en:abnormal transaminases (1 patient)

•

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

•

en:abnormal liver enzymes, episodic

•

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

•

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

•

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

•

en:coombs positive hemolytic anemia

•

en:decreased serum complement factor h

•

en:decreased thrombospondin

•

en:increased serum c-reactive protein, episodic

•

en:hypocitraturia

•

en:increased serum bilirubin due to hemolysis

•

en:increased serum arylsulfatase a.

•

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

•

en:increased plasma proglucagon

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased interleukin 10

•

en:increased il-6

•

en:increased csf immunoglobulin levels

•

en:increased csf histidine

•

en:inappropriately increased urine osmolality

•

en:hypogammaglobulinemia (in some patients)

•

en:hypocalcemia (male)

•

en:decreased ubiquinone-10

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:high serum osmolality

•

en:hereditary xanthinuria

•

•

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

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:elevated free carnitine

•

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

•

en:elevated afp (endodermal sinus tumor)

•

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

•

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

•

en:coarse metachromatic granules in white blood cells

•

en:direct coombs test negative

•

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

•

en:increased urinary thymine

•

en:multiple tissue biopsies show lysosomal storage disease

•

en:mildly elevated urinary mevalonic acid

•

en:low to very low hdl cholesterol

•

en:low plasma tryptophan (inflammatory type b)

•

en:low or absent iga levels

•

en:low csf creatine

•

en:ketonuria (1 patient)

•

en:intermittent severe hypoglycemia (in some patients)

•

en:intermittent ethylmalonic aciduria

•

en:increased urinary urate

•

en:increased urinary taurine

•

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

•

en:increased urinary organic acids (in some patients)

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary excretion of cystine

•

en:increased urinary 3-methylglutaconic acid

•

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

•

en:increased serum thymidine

•

en:increased serum lactate in acute stage

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum iduronate sulfatase

•

en:increased serum creatine kinase in acute stage

•

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

•

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

•

en:normal baseline cortisol

•

en:increased plasma pipecolic acid

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:xanthine nephrolithiasis

•

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

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:t cells may be increased or decreased

•

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

•

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

•

en:some fragmented or disrupted golgi

•

en:shortened telomeres (1 patient)

•

en:decreased activity of 3-hydroxyacyl-coa dehydrogenase in various tissues (liver, muscle, fibroblasts)

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:normal calcium (female)

•

en:platelet antibody positive

•

en:phosphorylase kinase deficiency in liver and muscle

•

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

•

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

•

en:occasional hypomagnesemia

•

en:normal transferrin isoelectric profile

•

en:normal serum folate levels

•

en:normal serum 1,25-dihydroxyvitamin d3

•

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

•

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

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:increased serum bile acids

•

en:serum creatine kinase 20-70 times normal

•

en:increased osmotic fragility

•

en:decreased serum rt3

•

en:female carriers show markedly skewed x inactivation

•

en:fasting chylomicronemia

•

en:elevated serum insulin-to-c-peptide ratio

•

en:elevated serum alpha-fetoprotein

•

en:elevated plasma levels of lp(a)

•

en:elevated alkaline phosphatase of bone origin

•

en:elevated alkaline phosphatase

•

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

•

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

•

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

•

en:decreased red cell pyruvate kinase activity

•

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

•

en:decreased plasminogen antigen

•

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

•

en:decreased palmitate oxidation

•

en:decreased or absent pts activity

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased hexokinase activity in red blood cells

•

en:decreased csf homovanillic acid (hva)

•

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

•

en:decreased antithrombin iii (rare)

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:increased neopterin in urine and csf

•

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

•

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

•

en:homocitrullinuria

•

en:impaired o-glycosylation

•

en:increased lysine in serum and csf

•

en:homozygous 122kb deletion 11p15-p14

•

en:increased ige level

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

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

•

en:increased csf pyruvic acid

•

en:increased csf protein

•

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

•

en:increased biliverdin in bodily fluids

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:increased gamma-interferon

•

en:immunoglobulin antibodies present

•

en:hyperalphalipoproteinemia

•

en:iiga and igg antigliadin antibodies (aga)

•

en:hyperkalemia

•

en:hyperchloremia (mean 114 mm)

•

en:hypocalcemia

•

en:hyperthreoninemia

•

en:hypokalemia during periodic paralysis (most patients)

•

en:hypomagnesemia

•

en:hyponatremia

•

en:hyponatremic dehydration, rarely

•

•

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

•

en:glycogen storage disease type vii

•

en:hematuria, gross and microscopic

•

en:hemoglobin f increased

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

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

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:hyperglycolic aciduria

•

en:hypoglycemia, intermittent

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:hyperlactemia

•

en:hypocalcemia (64% of adults)

•

en:hypofibrinogenemia

•

en:hypoprebetalipoproteinemia

•

en:igg deficiency

•

en:impaired mitochondrial translation

•

en:increased free cyanocobalamin in fibroblasts

•

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

•

en:increased intracellular fmrp mrna

•

en:gamma-glutamylcysteine deficiency

•

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

•

en:fibrinogen decreased

•

en:defect in oxidative phosphorylation

•

en:increased prevalence among the native american lumbee indians

•

en:decreased serum c3 (atypical hus)

•

en:decreased serum factor i (atypical hus)

•

en:decreased serum insulin-like growth factor-1 (igf1, 147440)

•

en:decreased serum trypsinogen

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:decreased telomere length in lymphocytes

•

en:decrease plasma serine (fasting)

•

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

•

en:fasting hypoglycemia (early in disease course)

•

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

•

en:deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity

•

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

•

en:dolichyl-p-glc:man(9)glcnac(2)-pp-dolichyl glucosyltransferase deficiency

•

en:elevated 3-methylcitric acid

•

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

•

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

•

en:elevated plasma stigmasterol

•

en:elevated urinary delta-aminolevulinic acid

•

en:increased peripheral blood monocytes

•

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

•

en:increased serum deoxyuridine

•

en:saposin a deficiency (finding)

•

en:parathyroid hormone (pth) absent to low

•

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

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:pipecolic acid accumulation.

•

en:platelet glycoprotein iiia deficiency

•

en:polymorphonuclear leukocytosis, episodic

•

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

•

en:reticulocytosis

•

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

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:severely decreased antigen levels of vwf and factor viii

•

en:severe amyloid angiopathy

•

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

•

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

•

en:type 1 collagen overmodification

•

•

en:urine uric acid decreased

•

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

•

en:normal to mildly increased mucopolysacchariduria

•

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

•

en:increased serum glycerol

•

en:low or absent luteinizing hormone (lh)

•

en:increased serum lactate during metabolic crisis

•

en:increased tissue long-chain fatty acids

•

en:increased urinary adenosine

•

en:increased urinary methylcitrate

•

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

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:iron overload (in some patients)

•

en:ketoacidosis

•

en:low to normal serum calcium

•

en:normal concentration of parathyroid hormone

•

en:mean platelet volume (mpv) 12.6fl

•

en:medium chain dicarboxylic aciduria

•

en:microduplication of chromosome 5p13

•

en:mildly elevated hdl in heterozygotes

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:neonatal hyperbilirubinemia

•

•

en:normal-elevated plasma testosterone (male range)

•

en:normal activity of von willebrand factor-cleaving protease

•

en:decreased plasma lpl levels (in some patients)

◀

•

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846207 • caches: c1=8 c2=1004 c3=1

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