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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C3279795

Associations d'idées

[F]

›

1000

en:no chromosomal breakage

•

en:platelet function test normal

•

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

•

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

•

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

•

en:decreased activity of complement factor d

•

en:decreased hdl cholesterol

•

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

•

en:increased plasma and urinary pipecolic acid

•

en:normal leukocyte and platelet counts

•

en:normal to elevated total plasma carnitine

•

en:increased serum acyl carnitines

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:hypercholesterolemia (reported in 2 patients)

•

en:increased urinary succinic acid

•

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

•

en:increased ferritin

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

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

•

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

•

en:creatine kinase levels may normalize with disease progression

•

en:alpha 1 foetoprotein amniotic fluid increased

•

en:aminoaciduria

•

en:decreased plasma esterified cholesterol

•

en:fatty alcohol:nad+ oxidoreductase deficiency in leukocytes and fibroblasts

•

en:increased serum transferrin

•

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

•

en:serum complement decreased

•

en:skewed x-inactivation in females

•

en:vitamin b12 deficiency (in some patients)

•

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

•

en:decreased b cells

•

en:high serum inosine levels

•

en:decreased fumarate hydratase activity

•

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

•

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

•

en:mildly decreased phosphaturic response to pth administration has been reported in some cases

•

en:decreased plasma free carnitine

•

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

•

en:decreased or absent serum ceruloplasmin

•

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

•

en:abnormal dystrophin on muscle biopsy

•

en:abnormal igfr1 function

•

en:aminoaciduria (in some patients)

•

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

•

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

•

en:decreased eno3 activity

•

en:elevated liver function tests

•

en:ferritin decreased

•

en:normal parathyroid hormone (female)

•

en:abnormal phospholipid profile

•

en:decreased serum alpha-2 macroglobulin levels

•

en:defect in mitochondrial and peroxisomal fission

•

en:elevated 1,25(oh)2 d3

•

en:fibroblasts show increased sensitivity to apoptosis

•

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

•

en:ketonuria

•

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

•

en:serum pristanic acid increased

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:increased uric acid level

•

en:glyoxalase deficiency

•

en:factor viii deficiency

•

en:low to normal plasma methionine

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

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

•

en:decreased activity of the pdh phosphatase

•

en:bilirubin conjugated increased

•

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

•

en:intracellular accumulation of unesterified cholesterol

•

en:glycogen storage disease type v

•

en:normal or increased serum phytanic acid

•

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

•

en:normal plasma and tissue carnitine

•

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

•

en:mild elevation of cholesterol

•

en:iron overload (in some patients)

•

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

•

en:elevated urinary delta-aminolevulinic acid

•

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

•

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

•

en:serum cholesterol normal

•

en:prolonged bleeding time

•

en:increased plasma free cholesterol

•

en:cell studies show increased dna breakage

•

en:decreased complement factor d

•

en:decreased fibroblast iduronate sulfatase

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated white blood cell cystine

•

en:hyperlipidemia

•

en:hypoproteinemia

•

en:anaphase loss or nondisjunction with trisomies, tetrasomies, monosomies

•

en:increased serum creatine kinase during episodes

•

en:hematuria (less common)

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:increased prv-1 (162860) mrna

•

en:hypoglycemia

•

en:low to low-normal magnesium

•

en:excessive iodide trapping

•

en:decreased iga, igg, igm

•

en:urocanase deficiency

•

en:tyrosine loss

•

en:alkaline phosphatase decreased

•

en:decreased serum free thyroxine

•

en:dicarboxylic aciduria

•

en:elevated serum parathyroid hormone (pth) level

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:pipecolic acidemia

•

en:serum bicarbonate increased

•

en:uremia

•

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

•

en:decreased serum ceruloplasmin

•

en:decreased activity of mitochondrial complex i

•

en:normal cerebrospinal fluid

•

en:decreased thyroxine level

•

en:serum iron normal

•

en:phosphaturia may disappear after a long period of time

•

en:tryptophanuria

•

en:microsomal hmg-coa reductase decreased

•

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

•

en:impaired mitochondrial translation

•

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

•

en:osteocalcin increased

•

en:decreased hexokinase activity in red blood cells

•

en:hypoglycemia, fasting

•

en:hypoxemia

•

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

•

en:increased lactate: pyruvate ratio (group b)

•

en:low rai (radioactive iodine) uptake

•

en:median mean platelet volume (mpv) 20fl

•

en:normal dermal hydroxylysine content

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:continuous urinary iodine loss

•

en:increased plasma progastrin

•

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

•

en:serum calcium elevated

•

en:normal or increased serum phosphate

•

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

•

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

•

en:homocysteinemia (in some patients)

•

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

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:increased urinary sialylglycopeptides

•

en:absent platelet agglutination in presence of ristocetin

•

en:antiribonuclear protein positive

•

en:defective t-cell proliferative responses (in some patients)

•

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

•

en:elevated inflammatory markers

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:euvolemia

•

en:hypoglycorrhachia (low glucose in csf)

•

en:increased csf transferrin despite normal serum transferrin levels

•

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

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

en:high ebv viral load

•

en:very low igm

•

en:normal lysyl hydroxylase activity

•

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

•

en:homocitrullinuria

•

en:platelet antibody positive

•

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

•

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

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:decreased plasma gonadotrophin

•

en:partial deficiency of factor xi (less common)

•

en:nonketotic hypoglycemia

•

en:normal isoelectric focusing of serum transferrin

•

en:normal serum liver enzymes

•

en:no hematuria

•

en:phosphate normal

•

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

•

en:phosphaturia (in some)

•

en:plasma catecholamines decreased

•

en:platelet aggregation decreased

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:poor mitogenic response to growth factors

•

en:neuraminidase deficiency (white blood cells, fibroblasts, cultured amniotic cells)

•

en:low copper and ceruloplasmin

•

en:mildly elevated hepatic enzymes

•

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

•

en:lysosomal-like storage vacuoles in various tissues

•

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

•

en:low or normal serum igm

•

en:low absolute lymphocyte count

•

en:leukotriene c4 synthetase deficiency

•

en:lactate pyruvate ratio normal

•

en:karyotype analysis normal finding

•

en:iron low

•

en:iron deficiency

•

en:intermediate level of cellular sensitivity to uv light

•

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

•

en:predominance of the d-stereoisomer

•

en:smooth muscle antibodies positive

•

en:presence of pc mrna

•

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

•

en:abnormal liver enzymes, intermittent

•

en:abacterial leukocyturia

•

en:4-hydroxyphenylpyruvic aciduria

•

en:laboratory abnormalities

•

en:widespread interstitial fibrosis (visceral organs)

•

en:very low iga

•

en:variable hypoglycemia

•

en:variable defects of inner dynein arms

•

en:urinary excretion of sialylated oligosaccharides

•

en:unresponsive to acth stimulation

•

en:transient eosinophilia in first decade

•

en:transferase deficiency galactosemia

•

en:increased urinary 3-methylcrotonylglycine

•

en:presence of serum anti-lu3 antibodies

•

en:shortened metaphase

•

en:serum thiamine is normal

•

en:serum phosphate normal

•

en:serum iron low (finding)

•

en:serum chloride level decreased (finding)

•

en:serum albumin low result

•

en:routine liver function tests normal

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:pyruvic acidemia

•

en:protein urine absent

•

en:prominent leukocytosis (30,000/ml)

•

en:prolonged activated partial prothrombin time (appt)

•

en:presence of vacuoles on muscle biopsy

•

en:increased urinary 3-oh-butyric acid

•

en:hyperhomocystinemia

•

en:increased urinary 2-methylacetoacetic acid

•

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

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated mchc

•

en:elevated il1-beta

•

en:elevated fasting glucose

•

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

•

en:elevated circulating parathyroid hormone (pth) level

•

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

•

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

•

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

•

en:decreased scad activity

•

en:decreased renal calcium excretion

•

en:decreased plasma apolipoprotein c-ii

•

en:decreased metabolism of thiopurine drugs

•

en:elevated serum transaminases during infections

•

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

•

en:decreased glutamine in bodily fluids

•

en:decreased c3 activity

•

en:cd4/cd8 ratio decreased

•

en:broad tissue deposition of amylopectin-like material

•

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

•

en:biotinidase deficiency

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

en:antithrombin iii deficiency

•

en:abnormal transferrin isoelectric focusing (ief)

•

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

•

en:abnormal oral glucose tolerance

•

en:elevated serum levels of adenosine

•

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

•

en:increased triglycerides (less common)

•

en:hyperprostaglandinuria

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum vitamin b12

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased iga level

•

en:increased fractional excretion of uric acid

•

en:increased erythropoietin

•

en:increased di- and asialo-transferrin

•

en:increased csf taurine

•

en:increased alpha-fetoprotein (1 patient)

•

en:inappropriately normal or increased plasma hepcidin

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hyperlipoproteinemia type iib

•

en:elevated urinary mevalonic acid

•

en:hypercholesterolemia (10%)

•

en:hyperbilirubinemia, unconjugated, 20-30mg/dl

•

en:high sweat electrolyte

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:hemizygous deletion at 4p16.3

•

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

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:fluorescence of red blood cells by uv microscopy

•

en:fasting hyperinsulinemia

•

en:exercise-induced myoglobinuria in adults

•

en:excessive urinary 5-oxo-l-proline

•

en:enzyme replacement therapy has not been effective

•

en:abnormal nasal potential difference

•

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

•

en:abnormal transaminases (1 patient)

•

en:increased urinary and serum glycine

•

en:leukocytosis

•

en:lactic acidemia

•

en:lack of lysosomal inclusions in visceral organs

•

en:lack of ciliary motility

•

en:ketosis

•

en:iodide organification defect

•

en:interstitial or terminal deletion of 18q

•

en:inner and outer dynein arm defects, variable

•

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

•

en:increased urinary malic acid

•

en:increased urinary isobutyryl glycine

•

en:increased urinary excretion of camp

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:low or low-normal serum t4

•

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

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased transferrin saturation (>60%)

•

en:increased susceptibility to ebv infection

•

en:increased serum manganese

•

en:increased serum iduronate sulfatase

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased peripheral blood monocytes

•

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

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:increased excretion of urobilinogen

•

en:low or absent iga levels

•

en:low plasma arginine

•

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

•

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

•

en:variable respiratory chain enzyme deficiency

•

en:absent or severely reduced levels of serum immunoglobulins

•

en:tyrosinemia

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:thyroid dyshormonogenesis 5

•

en:slightly increased serum alkaline phosphatase may occur

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:serum thyroxine may be decreased or normal

•

en:serum prolactin increased

•

en:serum bilirubin increased

•

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

•

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

•

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

•

en:low to very low hdl cholesterol

•

en:polymorphonuclear leukocytosis, episodic

•

en:plasma protein c deficiency

•

en:plasma ammonia not elevated

•

en:no mucopolysacchariduria

•

en:no hyperuricemia

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:normal lactate (hcs)

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:multiple tissue biopsies show lysosomal storage disease

•

en:multiple autoantibodies

•

en:molybdenum cofactor deficiency

•

en:mildly increased serum lactate

•

en:march myoglobinuria

•

en:increased biliverdin in bodily fluids

•

en:low plasma tryptophan (inflammatory type b)

•

en:impaired platelet aggregation

•

en:decreased c3 antigen

•

en:decreased serum igm

•

en:decreased serum and muscle coenzyme q

•

en:decreased or absent steroid sulfatase activity

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

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

•

en:decreased mitochondrial nadp(h)

•

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

•

en:decreased levels of plasma factor viii

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

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

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:decreased beta-glucocerebrosidase protein and activity

•

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

•

en:decreased asparagine levels (in some patients)

•

en:decreased activity of dihydrofolate reductase

•

en:creatine phosphokinase increased

•

en:cholesterol normal

•

en:ceruloplasmin decreased

•

en:cerebrospinal fluid lymphocytosis

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

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

•

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

•

en:iiga and igg antigliadin antibodies (aga)

•

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

•

en:absent pro alpha 2(i) chain synthesis (fibroblasts)

•

en:decreased serum l-transferrin (heterozygous patient)

•

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

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:eosinophilia

•

en:hypokalemia during periodic paralysis (most patients)

•

en:hypogammaglobulinemia, profound

•

en:hypocholesterolemia

•

en:defective mitochondrial respiratory enzyme activity

•

en:hypertriglyceridemia

•

en:hyperprolinemia type 1

•

en:hyperkalemia

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:hepatic gamma-cystathionase deficiency

•

en:gm2-ganglioside accumulation

•

en:glycosuria (less common)

•

en:factor vii deficiency

•

en:exercise-induced myoglobinuria

•

en:foam cells in visceral organs and cns

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:elevated csf/plasma glycine ratio

•

en:defect in oxidative phosphorylation

•

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

•

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

•

en:dermatan sulfate excretion in urine

•

en:direct coombs test negative

•

en:elevated ammonia

•

en:elevated gastrin concentration

•

en:elevated plasma acth

•

en:elevated progesterone

•

en:elevated serum acid phosphatase

•

en:deficiency of fat-soluble vitamins

•

en:mildly elevated blood ammonia

•

en:methemoglobinemia

•

en:normal lysyl oxidase activity

•

en:methylsuccinic aciduria

•

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

•

en:normal arterial oxygen saturation

•

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

•

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

•

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

•

en:normal aldosterone

•

en:normal constitutional karyotype

•

en:low serum alkaline phosphatase in heterozygotes

•

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

•

en:low serum magnesium

•

en:increased pristanic acid

•

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

•

en:increased serum creatine kinase, mild

•

en:increased free erythrocyte protoporphyrin

•

en:normal or increased serum creatine kinase

•

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

•

en:increased phytanic acid in body tissues and fluids

•

en:increased serum beta-carotene

•

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

•

en:increased serum levels of free plasma thyroid hormones

•

en:lactic acidemia (2p21del)

•

en:increased serum osteocalcin

•

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

•

en:increased urinary magnesium

•

en:indirect bilirubin increased

•

en:isovalerylglycinuria

•

en:kypokalemia

•

en:normal number of t and b lymphocytes

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

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

•

en:subtelomeric deletion of chromosome 16p

•

en:increased csf and plasma ghb

•

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

•

en:borderline elevated low-density lipoprotein

•

en:aminoaciduria, intermittent

•

en:accumulation of cholesterol esters in various tissues

•

en:absence of cd59 expression on red cells

•

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

•

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

•

en:5-oxoprolinase deficiency

•

en:4-hydroxyphenylactic aciduria

•

en:3-methylglutaconic aciduria

•

en:uroporphyrin i and coproporphyrin i are found in plasma, red blood cells, urine, and feces

•

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

•

en:systemic amyloidosis may occur

•

en:sialylation defects

•

en:normal serum cobalamin

•

en:reduced erythrocyte adenosine deaminase activity

•

en:no evidence of intrauterine infection in mother or newborn

•

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

•

en:peroxisome deficiency

•

en:prolonged prothrombin and partial thromboplastin times

•

en:pyrimidinuria

•

en:reactive hypoglycemia

•

en:reduced ferrochelatase activity

•

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

•

en:reduced ige levels

•

en:serum c-peptide and glucagon levels measurable

•

en:serum calcitonin, increased

•

en:serum iron raised

•

en:serum prolactin decreased

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:increased disialo- and asialotransferrin

•

en:aminoaciduria (rare)

•

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

•

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

•

en:decreased telomerase activity

•

en:decreased serum leptin

•

en:decreased serum iron (in some patients)

•

en:decreased serum cholesterol (in some)

•

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

•

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

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:decreased mitochondrial complex v assembly

•

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

•

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

•

en:decreased levels of certain coagulation factors

•

en:decreased dna excision repair

•

en:decreased csf homovanillic acid (hva)

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

en:defect in chylomicron secretion

•

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

•

en:cilia may also be static, with slow activity

•

en:4-hydroxyphenylacetic aciduria

•

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

•

en:abnormal acylcarnitine profiles

•

en:abnormal fecal fat

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

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

•

en:cystathioninemia

•

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

•

en:blood urea nitrogen increased

•

en:cd4+/cd8+ ratio is reversed

•

en:cilia show inner and outer dynein arm defects

•

en:creatine kinase normal between episodes

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

en:defect in double-stranded dna repair

•

en:increased biopterin in urine and csf

•

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

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:hepatic argininosuccinase deficiency

•

en:high-normal plasma triglyceride concentration (in heterozygotes)

•

en:high plasma citrulline (100-300 micromolar)

•

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

•

en:hyperbilirubinemia in those with liver failure

•

en:hypermagnesemia

•

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

•

en:hypoalbuminemia (in 83%)

•

en:hypocalciuria or normocalciuria

•

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

•

en:hypophosphatemia (less common)

•

en:impaired n-glycosylation

•

en:impaired oxidation of pyruvate

•

en:green serum

•

en:glycosuria

•

en:deficiency of creatine phosphate in brain

•

en:elevated pth (parathyroid hormone)

•

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

•

en:diagnosis by exposing muscle biopsy to caffeine and/or halothane

•

en:echocardiogram abnormal

•

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

•

en:elevated hcg (choriocarcinoma)

•

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

•

en:elevated serum iron

•

en:galactosuria without galactosemia

•

en:elevated serum phosphorus

•

en:elevated serum transferrin saturation

•

en:elevated sweat chloride

•

en:elevated testosterone

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:foam cells in bone marrow and renal glomeruli

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin heavy chain (147100, 14q32) locus

•

en:hypoxia

•

en:cortisol does not decrease on dexamethasone suppression test

•

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

•

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

•

en:orotic acid crystalluria

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

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

•

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

•

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

•

en:normal free urinary cortisol

•

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

•

en:normal csf 5-hiaa

•

en:normal concentration of parathyroid hormone

•

en:normal calcium (female)

•

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

•

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

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:iron binding capacity total increased

•

en:increased urinary neopterin

•

en:increased urinary oxylate

•

en:increased urinary urate

•

en:increased urine vanillactic acid (vla)

•

en:incresased urinary pyruvate

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:lactate high

•

en:methylglutaconic aciduria, mild

•

en:little to absent aspartylglucosaminuria activity

•

en:low-to-normal platelet count

•

en:low acth level

•

en:lysine-ketoglutarate reductase deficiency

•

en:markedly increased serum creatine kinase

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:persistent ebv viremia

•

en:platelet factor 4 decreased

•

en:increased uric acid with exercise

•

en:serum cortisol decreased

•

en:cystathionine beta-synthase deficiency disease

•

en:combined oxidative phosphorylation deficiency 8

•

en:vitamin b12 deficiency (uncommon)

•

en:very low leptin level

•

en:very low density lipoprotein increased

•

en:variably increased serum creatine kinase

•

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

•

en:tyrosine iodination defect

•

en:translocation of chromosomes 9 and 13

•

en:telomere shortening

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:serum triglycerides normal

•

en:serum phosphate concentration below normal

•

en:serum lactate is usually normal

•

en:serum carnitine deficiency

•

en:postprandial hyperglycemia (early in disease course)

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

en:premature separation of centromeric heterochromatin

•

en:prolonged partial thromboplastin time (ptt)

•

en:proper antibody response to protein vaccinations

•

en:prothrombin time increased

•

en:pyruvate-induced insulin secretion

•

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

•

en:serum and csf lactate may be increased

•

en:reduced beating amplitudes in cilia

•

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

•

en:reduced igg levels, particularly igg2 subclass

•

en:reticulocytosis

•

en:round, yellow-brown dha urine crystals

•

en:secondary decreases in complex i and iv activity

•

en:increased urinary adenosine

•

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

•

en:increased total bilirubin may occur

•

en:decreased serum rt3

•

en:elevated urine unsulfated chondroitin sulfate

•

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

•

en:elevated plasma stigmasterol

•

en:elevated plasma estrogen

•

en:elevated plasma campesterol

•

en:elevated csf glycine

•

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

•

en:elevated 3-methylcitric acid

•

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

•

en:deficiency or absence of p91-phox protein

•

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

•

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

•

en:decreased von willebrand factor

•

en:decreased tetrasialotransferrin levels

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:fibronectin decreased

•

en:decreased mitochondrial complex iii activity (in liver, muscle, and fibroblasts)

•

en:decreased circulating renin level

•

en:increased sodium-potassium pump activity

•

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

•

en:decreased dermal hydroxylysine content

•

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

•

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

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

en:decreased s-ado:saicar ratio

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased or absent histidase activity

•

en:decreased or normal serum factor b

•

en:decreased plasma zinc levels

•

en:decreased red cell pyruvate kinase activity

•

en:decreased respiratory chain complex iii activity in multiple tissues

•

en:ethylmalonic aciduria

•

en:decreased intracellular fmr protein

•

en:gamma-glutamylcysteine deficiency

•

en:increased serum bile acids

•

en:increased lysine in serum and csf

•

en:increased plasma lactate

•

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

•

en:increased rai (radioactive iodine) uptake

•

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

•

en:increased serum alkaline phosphatase (in some patients)

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased csf threonine

•

en:increased serum creatine kinase (patient a)

•

en:increased serum lactate, particularly after exercise

•

en:increased serum thymidine

•

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

•

en:increased serum unconjugated bilirubin

•

en:increased serum thyrotropin

•

en:increased interferon-alpha signal

•

en:increased serum deoxyuridine

•

en:increased csf homovanillic acid (hva)

•

en:hyperphosphatemia

•

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

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:hemizygous deletion at 7q11.23

•

en:hair bulb tyrosinase present

•

en:hypercholesterolemia (disorder)

•

en:hyperglutaminemia

•

en:hyperalphalipoproteinemia

•

en:hypocalcemia (64% of adults)

•

en:inappropriately low urine osmolality

•

en:hypocalciuria

•

en:hyponatremia

•

en:igg deficiency

•

en:impaired o-glycosylation

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:increased urinary glutaric acid

•

en:increased urinary lactate

•

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

•

en:increased urinary phospholipids

•

en:low urinary orotic acid

•

en:increased urinary sulfatides

•

en:isovalericaciduria

•

en:ketonuria, acute

•

en:may have increased serum parathyroid hormone (pth)

•

en:median mean platelet volume (mpv) 12.5fl

•

en:methionine adenosyltransferase deficiency

•

en:increased urinary excretion of coproporphyrin i

•

en:increased platelet aggregation with ristocetin

•

en:increased urinary dihydropyrimidines

•

en:increased urinary 2-hydroxybutyrate

•

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

•

en:increased serum lactate (in some patients)

•

en:increased serum alpha-mannosidase

•

en:increased plasma levels of bile acid intermediates

•

en:increased plasma creatine

•

en:increased creatine kinase, mild to moderate

•

en:increased 11-deoxycorticosterone

•

en:inappropriately increased urine osmolality

•

en:impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise

•

en:normal 46,xy karyotype

•

en:immunoglobulin a decreased

•

en:igm deficiency

•

en:mitochondria dna deletion

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

en:normal b12

•

en:secondary decrease of plasma free carnitine

•

en:absence of peroxidase staining in neutrophils and monocytes

•

en:hypokalemia during attacks

•

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

•

en:abnormal columnization of chondrocytes

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:urinary excretion of mucopolysaccharides

•

en:transaminitis

•

en:thymic hormone decreased

•

en:tenascin x deficiency (serum and fibroblasts)

•

en:structural abnormalities seen on chromosome analysis

•

en:serum folate normal

•

en:serum cortisol elevated

•

en:sce normal in heterozygotes

•

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

•

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

•

en:polyploid sperm heads

•

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

•

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

•

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

•

en:no metabolic abnormalities

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:normocalcemia

•

en:normal to mildly increased serum creatine kinase

•

en:normal sedimentation rate

•

en:normal or mildly reduced serum cobalamin

•

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

•

en:normal liver histology

•

en:i-cell disease

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:hypocalcemia (male)

•

en:carnitine deficiency

•

en:decreased grhpr activity

•

en:decreased galactokinase activity

•

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

•

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

•

en:decreased csf folate

•

en:decreased activity of tyrosine hydroxylase

•

en:decreased activity of thymidine phosphorylase

•

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

•

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

•

en:decreased acetyl-coa carboxylase activity

•

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

•

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

•

en:bile contains cholesterol crystals

•

en:decreased or absent apolipoprotein a-i

•

en:at least 2 complementation groups

•

en:aprt deficiency measured in erythrocyte lysate

•

en:aminoaciduria, mild (in some patients)

•

en:adenylosuccinase deficiency (finding)

•

en:accumulation of guanidinoacetate in brain

•

en:absent or abnormal thyroglobulin

•

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

•

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

•

en:abnormal serum liver enzyme levels

•

en:abnormal cholesterol homeostasis

•

en:2-oxoadipic aciduria

•

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

•

en:alkaline phosphatase normal

•

en:decreased mucosal alkaline phosphatase

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:hyperglycinuria (disorder)

•

en:elevated propionate

•

en:hyperammonemia

•

en:high serum guanosine levels

•

en:heparan sulfate excretion in urine

•

en:hemoglobin decreased

•

en:hematuria, macroscopic and microscopic

•

en:hematuria

•

en:glutaric aciduria

•

en:folate-dependent fragile site at xq28

•

en:fibroblasts attach poorly

•

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

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated serum lactate

•

en:elevated plasma luteinizing hormone (lh)

•

en:decreased serum androgens

•

en:elevated fasting triglycerides (seen in heterozygotes as well)

•

en:elevated afp (endodermal sinus tumor)

•

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:distal xp22.3 segmental monosomy

•

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

•

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

•

en:defective dna repair

•

en:defective (ca2+) mobilization in t cells

•

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

•

en:decreased sulfite oxidase activity

•

en:decreased serum iga

•

en:decreased serum haptoglobin

•

en:absent dystrophin on muscle biopsy

•

en:folic acid deficiency

•

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

•

en:increased urinary l-glycerate

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low plasma free and total carnitine

•

en:low or undetectable c-peptide

•

en:low or absent luteinizing hormone (lh)

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low apolipoprotein

•

en:liver transaminases normal to slightly increased

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:karyomegaly may be found in other visceral organs

•

en:intermittent ethylmalonic aciduria

•

en:increased vitamin e (alpha-tocopherol) levels

•

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

•

en:increased urinary hydroxyisovaleric acid

•

en:methioninuria

•

en:increased urinary fumaric acid

•

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

•

en:increased urinary 2-butanone

•

en:increased tissue levels of triglycerides

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased serum triglycerides (in some patients)

•

en:increased serum gm-csf

•

en:increased serum citrulline (group b)

•

en:increased serum bilirubin (in some patients)

•

en:increased serum alanine

•

en:increased plasma phospholipids

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased osmotic fragility

•

en:low serum uric acid

•

en:mildly elevated urinary mevalonic acid

•

en:increased igm level

•

en:positive antinuclear antibody test

•

en:xanthine nephrolithiasis

•

en:very low igg

•

en:upregulation of alpha-interferon-stimulated genes

•

en:transient hyperlipidemia

•

en:thrombocytosis (in some patients)

•

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

•

en:some fragmented or disrupted golgi

•

en:serum testosterone level normal

•

en:serum cholesterol raised

•

en:renin decreased

•

en:proteinuria in those with cystic kidneys

•

en:prolinuria

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:mild to moderate hyperammonemia

•

en:partial deficiency of factor xii(c)

•

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

•

en:no c8 antigen detected

•

en:normal tyrosinase

•

en:normal transferrin isoelectric profile

•

en:normal to slightly elevated plasma cholesterol

•

en:normal renin level

•

en:normal plasma phytanic acid

•

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

•

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

•

en:normal igg levels

•

en:normal collagen type i studies

•

en:antithrombin iii decreased

•

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

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:increased ige level

•

en:decreased plasma arginine

•

en:elevated erythrocyte aicar (zmp)

•

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

•

en:dyslipidemia

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:dehydration

•

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

•

en:deficient fibroblast aicar-tf activity

•

en:decrease plasma serine (fasting)

•

en:decreased transferrin increased serum iron

•

en:decreased tissue total and free carnitine

•

en:decreased serum factor i (atypical hus)

•

en:decreased plasma total cholesterol

•

en:decreased or absent pts activity

•

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

•

en:decreased gtp cyclohydrolase i activity (about 20% of normal)

•

en:decreased glycerol kinase activity

•

en:decreased cortisol-binding globulin

•

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

•

en:decreased apoa-i and apoa-ii

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:decreased agt activity

•

en:decreased activity of nadph oxidase

•

en:decreased acid beta galactosidase protein and activity

•

en:c-band karyotype shows 'railroad track' appearance

•

en:bicarbonaturia

•

en:azotemia

•

en:increased csf protein

•

en:elevated gamma-glutamyltransferase

•

en:decreased or normal plasma insulin

•

en:elevated serum transaminase levels

•

en:hyperbilirubinemia, non-hemolytic unconjugated (may rise with fasting or dehydration)

•

en:increased cellular sensitivity to uv light

•

en:elevated urinary hyaluronic acid levels

•

en:increased bone serum acid phosphatase

•

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

•

en:hypouricemia

•

en:hypoprebetalipoproteinemia

•

en:hypomagnesemia

•

en:hypofibrinogenemia

•

en:hyperprolinemia (10-15 times normal)

•

en:hyperlipoproteinemia type i

•

en:hyperlactemia

•

en:hyperinsulinemia

•

en:hyperglycemias, postprandial

•

en:hyperthreoninemia

•

en:galactosylation defects

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:homocystinuria

•

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

•

en:high sister chromatid exchange (sce) rate

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:heteroplasmic partial duplication of mtdna

•

en:hepatic argininosuccinate synthetase deficiency

•

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

•

en:extremely low creatine excretion

•

en:fumarase deficiency

•

en:frequent deletions of chromosome 9 in melanoma

•

en:homozygous 122kb deletion 11p15-p14

•

en:increased urinary 3-methylglutaconic acid

•

en:increased serum lactate dehydrogenase (in 1 family)

•

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

•

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

•

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

•

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

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:lactic acidosis

•

en:increased urinary hga

•

en:increased urinary taurine

•

en:intermittent severe hypoglycemia (in some patients)

•

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

•

en:low free carnitine

•

en:increased csf pyruvic acid

•

en:increased free cyanocobalamin in fibroblasts

•

en:hereditary fructose intolerance

•

en:increased csf interferon

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:low serum levels of ketone bodies

•

en:glycoamino aciduria

•

en:hereditary angioedema

•

en:high nonceruloplasmin-bound serum copper

•

en:hydrocortisone decreased

•

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

•

en:hypermagnesiuria

•

en:increased cholesterol

•

en:hypoalbuminemia

•

en:impaired creatine uptake in fibroblasts

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:incomplete n-glycosylation of cellular proteins

•

en:increased 11-deoxycortisol

•

en:increased activity of the prpp synthetase 1 enzyme

•

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

•

en:transient neonatal hypocalcemia (2p21del)

•

en:low to normal serum calcium

•

en:serum mitochondrial autoantibodies

•

en:positive urinary bratton-marshall test

•

en:reduced erythrocyte glucose/hexose transport

•

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

•

en:serum c-reactive protein may be increased

•

en:serum cholesterol low or normal

•

en:serum copper decreased

•

en:severely decreased antigen levels of vwf and factor viii

•

en:partial deficiency of factor xiii (less common)

•

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

•

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

•

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

•

en:type 1 collagen overmodification

•

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

•

en:undetectable plasma dbh activity

•

en:phytanic acid accumulation

•

en:parathyroid hormone normal

•

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

•

en:myelin basic protein measurement, spinal fluid

•

en:marked hypobetalipoproteinemia

•

en:metachromasia of white blood cells and fibroblasts

•

en:methylmalonic aciduria

•

en:microdeletion 22q11.2

•

en:mildly elevated hdl in heterozygotes

•

en:mitochondrial complex i deficiency in muscle

•

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

•

en:paraproteinemia

•

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

•

en:normal-elevated plasma testosterone (male range)

•

en:normal baseline cortisol

•

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

•

en:normal pyridinoline excretion in urine

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

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

◀

Génériques

[F] [H]

›

en:decreased

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846569 • caches: c1=14 c2=1006 c3=3

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