Diko : en:elevated urinary pyridinoline and deoxypyridinoline

en:elevated urinary pyridinoline and deoxypyridinoline

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C3554684

Associations d'idées

[F]

›

1000

en:normal calcium (female)

•

en:increased urinary acetoacetic acid

•

en:increased urinary succinic acid

•

en:absent or abnormal thyroglobulin

•

en:cd4/cd8 ratio decreased

•

en:decreased methylcobalamin (mecbl)

•

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

•

en:elevated ast and ldh, especially infantile-onset

•

en:elevated plasma estrogen

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:increased serum thrombopoietin may occur

•

en:elevated urinary pge(2) levels

•

en:iodine depletion

•

en:serum creatinine raised

•

en:increased serum unconjugated bilirubin

•

en:lactate dehydrogenase increased

•

en:decreased nasal nitric oxide

•

en:decreased methylmalonyl-coa mutase activity

•

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

•

en:serum albumin low result

•

en:protein urine absent

•

en:pentagastrin stimulation test

•

en:normal or increased serum phytanic acid

•

en:argininosuccinic aciduria

•

en:elevated ammonia

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:mildly decreased serum creatinine

•

en:mildly elevated transaminases

•

en:normal serum erythropoietin (epo, 133170)

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:undetectable norepinephrine (noradrenaline) in plasma, urine, csf

•

en:urine osmolarity decreased

•

en:abnormal secretin test

•

en:increased serum creatine kinase during episodes

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:leukocytosis

•

en:normal serum lipoprotein levels

•

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

•

en:phosphaturia may disappear after a long period of time

•

en:low plasma arginine

•

en:chronic hypoxemia

•

en:hyperornithinemia

•

en:homozygous 122kb deletion 11p15-p14

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:decreased or absent serum citrulline

•

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

•

en:decreased serum alpha-2 macroglobulin levels

•

en:increased urinary tiglylglycine

•

en:increased urinary mannose-containing oligosaccharides

•

en:increased serum lactate (patient a)

•

en:hyperuricuria

•

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

•

en:decreased complement factor d

•

en:decreased or absent dihydropteridine reductase activity

•

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

•

en:cystathioninuria (lab finding)

•

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

•

en:absence of outer dynein arms

•

en:intracellular accumulation of unesterified cholesterol

•

en:4-hydroxyphenyllactic aciduria

•

en:abnormal transferrin isoelectric focusing (ief)

•

en:kypokalemia

•

en:ketoses, metabolic

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:secondary decreases in complex i and iv activity

•

en:platelet factor 4 decreased

•

en:metabolic acidosis

•

en:normal free urinary cortisol

•

en:high sweat sodium and chloride

•

en:parathyroid hormone (pth) absent to low

•

en:fasting chylomicronemia

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated 3-hydroxypropionic acid

•

en:decreased serum thiamine pyrophosphate

•

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

•

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

•

en:no increased sensitivity to oxidative species

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:antithrombin iii deficiency

•

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

•

en:disorganized growth plate cartilage

•

en:increased c10:2-carnitine

•

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

•

en:microscopic hematuria

•

en:osteocalcin increased

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:low serum uric acid

•

en:decreased serum ferritin

•

en:increased urinary excretion of camp

•

en:partial deficiency of factor xii(c)

•

en:immunoreactive pc protein

•

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

•

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

•

en:increased urinary and serum glycine

•

en:increased plasma pipecolic acid

•

en:increased peripheral blood monocytes

•

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

•

en:methionine adenosyltransferase deficiency

•

en:low serum alkaline phosphatase in heterozygotes

•

en:low rai (radioactive iodine) uptake

•

en:increased urinary potassium

•

en:increased serum triiodothyronine (t3)

•

en:increased serum lactate hydrogenase

•

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

•

en:elevated serum acid phosphatase

•

en:hypokalemia occurs during paralytic attacks

•

en:glomerular filtration rate decreased

•

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

•

en:normal isoelectric focusing of serum transferrin

•

en:elevated pyruvate (in most patients)

•

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

•

en:decreased adiponectin

•

en:normal cd8+/cd4+ ratio

•

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

•

en:platelet count normal

•

en:hyperammonemia, episodic

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:osteosclerotic metaphyseal dysplasia

•

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

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary o-linked sialopeptides

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:markedly reduced igg levels

•

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

•

en:decreased activity of 2-oxoacid dehydrogenases

•

en:elevated calcitonin

•

en:decreased or absent udp-glucuronyl-transferase activity

•

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

•

en:decreased csf glycine

•

en:decreased b cells

•

en:fibronectin decreased

•

en:normal serum cobalamin

•

en:microtubule disorganization in some cilia

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:decreased blood levels of cationic amino acids

•

en:increased plasma creatine

•

en:hypogammaglobulinemia

•

en:decreased or normal serum factor b

•

en:decreased activity of complement factor d

•

en:abnormal columnization of chondrocytes

•

en:reduced total and free carnitine in plasma and tissue

•

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

•

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

•

en:low serum acth

•

en:serum creatine kinase may be normal

•

en:borderline elevated low-density lipoprotein

•

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

•

en:orotic acid crystalluria

•

en:hyperlactemia

•

en:elevated liver function tests

•

en:elevated 17-hydroxyprogesterone

•

en:decreased plasma total and free carnitine

•

en:decreased csf hypocretin

•

en:absent igg2 subclass

•

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

•

en:elevated plasma alloisoleucine

•

en:hypocalciuria or normocalciuria

•

en:increased platelet aggregation with ristocetin

•

en:low or normal serum calcium

•

en:normal serum 25-hydroxyvitamin d3

•

en:iron deficiency

•

en:decreased natural killer cells

•

en:deficient efflux of intracellular cholesterol

•

en:decreased serum acth

•

en:elevated crp

•

en:increased serum and csf glycine

•

en:increased serum triglycerides (in some patients)

•

en:reduced iga

•

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

•

en:low copper and ceruloplasmin

•

en:decreased cholesterol (less common)

•

en:complex organic aciduria

•

en:translocation between 18q21 and 14q32

•

en:serum iron low (finding)

•

en:presence of pc mrna

•

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

•

en:increased csf taurine

•

en:elevated serum alpha-fetoprotein

•

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

•

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

•

en:acetyl coa:alpha-glucosaminidase n-acetyltransferase deficiency in fibroblasts

•

en:absent ch50 activity in complete c4 deficiency

•

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

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

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

•

en:normal serum cobalamin (vitamin b12)

•

en:elevated 7-dehydrocholesterol

•

en:tryptophanuria

•

en:reduced erythrocyte glucose/hexose transport

•

en:raised c-reactive protein

•

en:normal to increased plasma glycine

•

en:serum cholesterol raised

•

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

•

en:extremely low creatine excretion

•

en:mildly elevated acth

•

en:lysine-ketoglutarate reductase deficiency

•

en:increased serum thymidine

•

en:hyperprolinemia type 1

•

en:normal csf 5-hiaa

•

en:increased serum bilirubin due to hemolysis

•

en:increased serum transferrin

•

en:increased serum uric acid

•

en:increased tissue long-chain acylcarnitines

•

en:increased urinary citric acid cycle intermediates

•

en:loss of ciliary beat coordination

•

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

•

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

•

en:ketonemia

•

en:low alkaline phosphatase

•

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

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:may have increased serum parathyroid hormone (pth)

•

en:hyperglycemia

•

en:inappropriately increased urine osmolality

•

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

•

en:increased long-chain acylcarnitine

•

en:increased iga level

•

en:increased hepatic parenchymal cell stainable iron

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:increased csf histidine

•

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

•

en:immediate (type i) skin test reactivity

•

en:hypoxemia

•

en:hypophosphatemia (less common)

•

en:hypogammaglobulinemia (in some patients)

•

en:hypermagnesemia

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

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

•

en:median mean platelet volume (mpv) 12.5fl

•

en:serum osmolality decreased

•

en:mild eosinophilia may occur

•

en:serum corticosterone increased

•

en:aldosterone level increased above normal

•

en:accumulation of cholesterol esters in various tissues

•

en:absent or severely reduced levels of serum immunoglobulins

•

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

•

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

•

en:urocanase deficiency

•

en:urinary prostaglandin e

•

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

•

en:thyroid peroxidase defect

•

en:thyroid dyshormonogenesis 4

•

en:tay-sachs disease

•

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

•

en:smooth muscle antibodies positive

•

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

•

en:serum acid phosphatase normal

•

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

•

en:secondary decrease of plasma free carnitine

•

en:reduced erythrocyte gs activity

•

en:raised tsh level

•

en:protein c decreased

•

en:prolonged activated partial prothrombin time (appt)

•

en:phosphorylase kinase normal in muscle

•

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

•

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

•

en:partial deficiency of factor xi (less common)

•

en:parathyroid hormone level increased

•

en:normal serum phosphorus

•

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

•

en:normal leukocyte and platelet counts

•

en:normal dermal hydroxylysine content

•

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

•

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

•

en:hyperbilirubinemia

•

en:citrullinemia

•

en:decreased mitochondrial complex iii activity in muscle

•

en:decreased hdl cholesterol

•

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

•

en:decreased fbp1 enzyme activity

•

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

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased activity of thymidine phosphorylase

•

en:decreased activity of the pyruvate dehydrogenase complex (highly variable, 1-70% of controls)

•

en:decreased activity of phosphoglycerate kinase 1

•

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

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

en:creatine decreased

•

en:contiguous gene deletion syndrome

•

en:chromosomal rearrangement

•

en:decreased monoamine oxidase a activity

•

en:cd4+/cd8+ ratio is reversed

•

en:carnitine deficiency

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:anti-ds dna antibody

•

en:adenylosuccinase deficiency (finding)

•

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

•

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

•

en:abnormal nuclear morphology

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:abnormal cholesterol homeostasis

•

en:abnormal cardiolipin subspecies composition

•

en:abnormal acylcarnitine profiles

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:atrial abnormalities on electrocardiogram

•

en:decreased mitochondrial complex v assembly

•

en:decreased or absent histidase activity

•

en:hyperammonemia after protein intake

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:hyperammonemia

•

en:high plasma citrulline (100-300 micromolar)

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:hepatic ornithine transcarbamylase deficiency

•

en:hepatic glycine cleavage defect

•

en:glyoxalase deficiency

•

en:glycosuria

•

en:glutaric aciduria

•

en:foam cells in bone marrow and renal glomeruli

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

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

•

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

•

en:elevated white blood cell cystine

•

en:elevated plasma acth

•

en:decreased or absent serum ceruloplasmin

•

en:elevated liver enzymes

•

en:elevated fibroblast free sialic acid

•

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

•

en:elevated csf glycine

•

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

•

en:elevated alkaline phosphatase

•

en:dermatan sulfate excretion in urine

•

en:defects in mitochondrial oxidative phosphorylation

•

en:defective mitochondrial respiratory enzyme activity

•

en:decreased udp-glcnac

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased plasma free carnitine

•

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

•

en:alpha ketoadipic aciduria

•

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

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:increased urinary excretion of cystine

•

en:low to normal serum calcium

•

en:low serum igg and iga

•

en:low or absent iga levels

•

en:low free carnitine

•

en:low acth level

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:lactate high

•

en:interstitial or terminal deletion of 18q

•

en:intermittent severe hypoglycemia (in some patients)

•

en:intermittent 3-methylglutaconic aciduria

•

en:incresased urinary pyruvate

•

en:increased urinary malic acid

•

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

•

en:increased urinary 7-biopterin (primapterin)

•

en:n-glycosylation defect

•

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

•

en:increased uric acid with exercise

•

en:increased serum serotonin in 25%

•

en:increased serum methionine (reported in 2 cases)

•

en:increased serum gamma-ggt (231950)

•

en:increased serum creatine kinase (1 family)

•

en:increased serum alkaline phosphatase (in some patients)

•

en:increased plasma progastrin

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased ige level

•

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

•

en:increased circulating renin level

•

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

•

en:incomplete n-glycosylation of cellular proteins

•

en:multiple tissue biopsies show lysosomal storage disease

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

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

•

en:variable hyperlipidemia

•

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

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

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

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:shortened telomeres (in 1 of 2 patients)

•

en:serum iron normal

•

en:serum ferritin hyperglycosylation

•

en:serum creatine kinase may be normal or increased

•

en:serum calcium elevated

•

en:serum and csf lactate may be increased

•

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

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:pyruvate-induced insulin secretion

•

en:normal-elevated plasma testosterone (male range)

•

en:protein total decreased

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:prolinuria

•

en:positive antinuclear antibody test

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:paraproteinemia

•

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

•

en:normal serum and mucosal iga

•

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

•

en:normal phytanic acid

•

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

•

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

•

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

•

en:normal baseline cortisol

•

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

•

en:tyrosinemia

•

en:impaired o-glycosylation

•

en:decreased serum and salivary lactoferrin has been described in 1 family

•

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

•

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

•

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

•

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

•

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

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:defect in n- and o-glycosylation

•

en:defective dna repair

•

en:decreased whole blood serotonin

•

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

•

en:decreased serum iga

•

en:decreased serum factor h (atypical hus)

•

en:decreased serum cholesterol (in some)

•

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

•

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

•

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

•

en:decreased glomerular filtration rate (gfr)

•

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

•

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

•

en:decreased circulating aldosterone level

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

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

•

en:decreased activity of mitochondrial respiratory chain complex i

•

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

•

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

•

en:chondroitin 6-sulfate excretion in urine

•

en:impaired mitochondrial translation

•

en:cells show defective transcription-coupled nucleotide excision repair (tc-ner) after uv irradiation

•

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

•

en:cerebrospinal fluid lymphocytosis

•

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

•

en:exercise-induced myoglobinuria

•

en:immunoglobulin antibodies present

•

en:elevated androstenedione

•

en:hypoalbuminemia

•

en:hyperkalemia

•

en:hyperchloridura

•

en:hla-dqw6 association (dqb1*0602)

•

en:high plasma asparagine

•

en:heparin cofactor ii deficiency (disorder)

•

en:hematuria (less common)

•

en:glycosuria (less common)

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:glucose-6-phosphate deficiency

•

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

•

en:fucosidosis

•

en:hypouricemia

•

en:epstein-barr viraemia

•

en:elevated serum bile acids

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:elevated inflammatory markers

•

en:elevated mchc

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated pregnenolone

•

en:elevated serum lactate

•

en:elevated serum levels of adenosine

•

en:elevated serum levels of luteinizing hormone (lh)

•

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

•

en:elevated serum parathyroid hormone (pth) level

•

en:elevated sweat chloride

•

en:elevated urinary 3-methylglutaconate

•

en:increased urinary excretion of coproporphyrin i

•

en:increased urinary carnitine

•

en:increased urinary catecholamines

•

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

•

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

•

en:hyperuricemia

•

en:increased urinary magnesium

•

en:increased urinary sulfatides

•

en:leukotriene c4 synthetase deficiency

•

en:low-to-normal csf lactate

•

en:low growth hormone levels

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased fas ligand

•

en:increased serum parathyroid hormone (pth)

•

en:increased serum methionine

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:increased serum arylsulfatase a.

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:increased serum acylcarnitines

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:increased chromosomal breakage

•

en:increased bile acid intermediates (dhca and thca)

•

en:increased 11-deoxycorticosterone

•

en:hyponatremia in infancy

•

en:hypocitraturia

•

en:hypocalcemia (male)

•

en:low or absent growth hormone (gh)

•

en:hypoalbuminemia (in 83%)

•

en:partial deficiency of factor xi(c)

•

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

•

en:pyrimidinuria

•

en:urinary excretion of mucopolysaccharides

•

en:hyperoxalaemia

•

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

•

en:unresponsive to acth stimulation

•

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

•

en:thrombocytopenia

•

en:some cilia show central complex and radial spoke defects

•

en:shortened metaphase

•

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

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:serum thiamine is normal

•

en:serum iron raised

•

en:serum cholesterol normal

•

en:serum ammonia increased

•

en:premature chromosome condensation

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:positive urine dnph screening test

•

en:polycythemia

•

en:oligospermia or azoospermia

•

en:occasionally mild elevation of csf protein

•

en:no hematuria

•

en:no cartilage staining with toluidine blue

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal serum plasmalogen

•

en:normal iga levels

•

en:nonketotic hypoglycemia

•

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

•

en:myoglobinuria

•

en:mitochondrial deletions

•

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

•

en:hyperthreoninuria

•

en:defect in dna repair

•

en:hypermethioninemia, progressive

•

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

•

en:decreased plasma arginine

•

en:decreased phgdh activity (fibroblasts)

•

en:decreased or absent ciliary motility

•

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

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:decreased cerebrospinal fluid folic acid

•

en:d-2-hydroxyglutaric aciduria

•

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

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:creatine phosphokinase serum increased

•

en:cilia show inner and outer dynein arm defects

•

en:cerebrospinal fluid oligoclonal bands

•

en:cells show increased sensitivity to ionizing radiation

•

en:broad tissue deposition of amylopectin-like material

•

en:decreased von willebrand factor

•

en:ballooned neurons

•

en:antineutrophil cytoplasmic antibody

•

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

•

en:amylo-1,6-glucosidase deficiency

•

en:aminoaciduria

•

en:alkaline phosphatase decreased

•

en:accumulation of unprocessed mt-trna intermediates in skeletal muscle cells and fibroblasts

•

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:abnormal liver enzymes, intermittent (1 patient)

•

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

•

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

•

en:aberrant gamma-interferon-mediated inflammation

•

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

•

en:decreased urinary sulfate

•

en:decrease plasma serine (fasting)

•

en:hyperglycinuria (disorder)

•

en:elevated urine ceramide levels

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:homocystinuria (in some patients)

•

en:homocystinemia

•

en:high urinary orotic acid

•

en:high sweat electrolyte

•

en:high plasma triglyceride levels

•

en:hemoglobin decreased

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

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

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:folate-dependent fragile site at xq28

•

en:exercise-induced myoglobinuria in adults

•

en:euvolemia

•

en:elevated urinary epinephrine

•

en:defective dna repair after ultraviolet radiation damage

•

en:elevated urinary delta-aminolevulinic acid

•

en:elevated serum protein

•

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

•

en:elevated progesterone

•

en:elevated long chain fatty acids

•

en:elevated hepatic transaminases

•

en:elevated gastrin concentration

•

en:elevated gamma-glutamyltransferase

•

en:elevated csf/plasma glycine ratio

•

en:elevated 8(9)-cholestenol

•

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

•

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

•

en:dyslipidemia

•

en:deficiency or absence of p22-phox protein

•

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

•

en:iron binding capacity total increased

•

en:abacterial leukocyturia

•

en:increased urinary 2-oxoglutaric acid

•

en:low-to-normal platelet count

•

en:liver transaminases normal to slightly increased

•

en:lactic acidosis

•

en:ketosis

•

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

•

en:iron overload (in some patients)

•

en:iodide organification defect

•

en:intermittent ethylmalonic aciduria

•

en:inner and outer dynein arm defects, variable

•

en:increased urinary hga

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary creatine

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased urinary 2-ketoglutarate (variable)

•

en:low plasma tryptophan (inflammatory type b)

•

en:increased urinary 2-butanone

•

en:increased transferrin saturation (>60%)

•

en:increased serum pyruvate in acute stage

•

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

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum deoxyuridine

•

en:increased serum bile acids

•

en:increased serum ammonia (group b)

•

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

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased rai (radioactive iodine) uptake

•

en:increased prevalence among the native american lumbee indians

•

en:increased levels of carcinoembryonic antigen

•

en:increased lactate in spinal fluid

•

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

•

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

•

en:increased csf glycine

•

en:reduced beating amplitudes in cilia

•

en:abnormal eeg in 25% hospitalized patients

•

en:vitamin b12 deficiency (uncommon)

•

en:very low density lipoprotein increased

•

en:variable respiratory chain enzyme deficiency

•

en:transferrin saturation increased

•

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

•

en:telomere shortening

•

en:severe amyloid angiopathy

•

en:serum thyroxine may be decreased or normal

•

en:serum lactate is usually normal

•

en:round, yellow-brown dha urine crystals

•

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

•

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

•

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

•

en:methylmalonic aciduria

•

en:proper antibody response to protein vaccinations

•

en:pms show deficient oxidation of debrisoquine

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:no ketonuria

•

en:no evidence of perinatal infection

•

en:normal serum biotin concentration

•

en:normal renin level

•

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

•

en:normal lysyl hydroxylase activity

•

en:normal csf neurotransmitters

•

en:neonatal hyperbilirubinemia

•

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

•

en:mild hyperammonemia

•

en:mild elevation of triglycerides

•

en:increased free cyanocobalamin in fibroblasts

•

en:transcobalamin ii deficiency

•

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

•

en:decreased iga, igg, igm

•

en:deficiency of serum properdin p factor

•

en:deficiency of creatine phosphate in brain

•

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

•

en:defective (ca2+) mobilization in t cells

•

en:decreased telomerase activity

•

en:decreased serum vitamin a

•

en:decreased plasma glycine

•

en:decreased plasma esterified cholesterol

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

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

•

en:decreased methionine synthase activity

•

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

•

en:decreased fibroblast alpha-mannosidase

•

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

•

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

•

en:decreased activity of nadph oxidase

•

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

•

en:cystathionine beta-synthase deficiency disease

•

en:csf pleocytosis, particularly of lymphocytes

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:cholesterol normal

•

en:antithrombin iii decreased

•

en:antiphospholipid antibody

•

en:antineutrophil antibody positivity

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abnormal lipid profile

•

en:increased biliverdin in bodily fluids

•

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

•

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

•

en:anti-ssb positive

•

en:echocardiogram abnormal

•

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

•

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

•

en:increased 11-deoxycortisol

•

en:hypomagnesemia

•

en:hypoxia

•

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

•

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

•

en:high sister chromatid exchange (sce) rate

•

en:high ebv viral load

•

en:hepatic gamma-cystathionase deficiency

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:glutathione deficiency

•

en:folic acid deficiency

•

en:foam cells in visceral organs and cns

•

en:hypogammaglobulinemia, profound

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated alpha-ketoglutarate (in most patients)

•

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

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated afp (endodermal sinus tumor)

•

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

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:elevated plasma and urine succinylacetone

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:elevated urinary ornithine, lysine, arginine

•

en:elevated urine unsulfated chondroitin sulfate

•

en:eosinophilia

•

en:elevated plasma branched chain amino acids (leucine, isoleucine, valine)

•

en:ethylmalonic aciduria

•

en:low serum cortisol

•

en:low or absent prolactin (pl)

•

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

•

en:low serum ceruloplasmin

•

en:methylmalonic acidemia

•

en:low urinary cyclic amp response to pth administration

•

en:methemoglobinemia

•

en:methylsuccinic aciduria

•

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

•

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

•

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

•

en:low or absent igm levels

•

en:increased urinary oligosaccharides

•

en:low fasting glucose (in some patients)

•

en:ketonuria, acute

•

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

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:infantile hypophosphatasia

•

en:increased urine porphyrins at times

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased serum direct bilirubin

•

en:increased serum beta-hexosaminidase (10-20x)

•

en:increased serum acyl carnitines

•

en:increased plasma renin activity

•

en:increased plasma pristanic acid

•

en:increased lactate: pyruvate ratio (group b)

•

en:increased il-6

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

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

•

en:normal 46,xy karyotype

•

en:positive kveim-siltzbach skin test

•

en:serum calcium normal

•

en:increased free erythrocyte protoporphyrin

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:rheumatoid factor positive (finding)

•

en:reticulocyte count increased

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:relatively low urinary pge-m levels

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

en:rapid radioactive iodide (rai) discharge after thiocyanate or perchlorate

•

en:prominent leukocytosis (30,000/ml)

•

en:prolonged bleeding time

•

en:presence of cytochrome b(-245)

•

en:polyploid sperm heads

•

en:normal b12

•

en:plasmalogen deficiency

•

en:patient fibroblasts and muscle show decreased activities of mitochondrial complexes i, iii, and iv

•

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

•

en:panhypogammaglobulinemia

•

en:orotic aciduria

•

en:organic aciduria, mild (in some patients)

•

en:no hyperphenylalaninemia

•

en:normal to slightly high alkaline phosphatase

•

en:normal to increased plasma threonine

•

en:normal sedimentation rate

•

en:normal plasma and tissue carnitine

•

en:normal or mildly increased serum creatine kinase

•

en:normal or mildly decreased arylsulfatase a activity

•

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

•

en:decreased transferrin increased serum iron

•

en:increased 18-oxocortisol

•

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

•

en:decreased serum factor i (atypical hus)

•

en:decreased secretion of igf1 in response to gh administration

•

en:decreased phytanic acid oxidase activity

•

en:decreased nasal nitric oxide (in some patients)

•

en:decreased levels of serum vitamin b12

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

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

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:decreased activity of mitochondrial respiratory complexes

•

en:decreased acetyl-coa carboxylase activity

•

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

•

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

•

en:bone marrow hypoplasia (in some patients)

•

en:decreased telomere length in lymphocytes

•

en:blood urea nitrogen increased

•

en:anti-iga antibodies commonly present

•

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

•

en:acute-phase reactants during fever

•

en:accumulation of guanidinoacetate in brain

•

en:absent platelet agglutination in presence of ristocetin

•

en:absent axonal flare response after intradermal histamine injection

•

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

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

en:abnormal liver enzymes, episodic

•

en:5-hiaa csf may be normal or decreased

•

en:4-hydroxyphenylacetic aciduria

•

en:serum creatine kinase may be increased

•

en:decreased serum rt3

•

en:decreased uros activity (1 patient)

•

en:immunoglobulin a decreased

•

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

•

en:hypoproteinemia due to hypercatabolism

•

en:hypomethioninemia

•

en:hypoketotic hypoglycemia

•

en:hypoglycosylation of plasma glycoproteins

•

en:hypertriglyceridemia (rare)

•

en:hyperprostaglandinuria

•

en:hyperphenylalaninemia

•

en:hypernatriuria

•

en:hyperhomocystinemia

•

en:hypercholesterolemia (10%)

•

en:hypercalciuria (in some patients)

•

en:holocarboxylase synthetase deficiency

•

en:high ft3/ft4 ratio

•

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

•

en:glycogen storage disease type vi

•

en:glycogen accumulation in both liver and muscle

•

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

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:enzyme replacement therapy has not been effective

•

en:elevated urinary 2-ethylhydracrylate

•

en:elevated sweat chloride (some)

•

en:elevated serum iron and iron binding capacity

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:elevated plasma stigmasterol

•

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

•

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

•

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

•

en:serum complement decreased

•

en:female carriers show markedly skewed x inactivation

•

en:serum testosterone decreased

•

en:systemic amyloidosis may occur

•

en:mean platelet volume (mpv) 12.6fl

•

en:low or undetectable c-peptide

•

en:low or normal serum erythropoietin

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:low apolipoprotein

•

en:low-molecular-weight proteinuria

•

en:liver function tests normal

•

en:lack of ciliary motility

•

en:ketonuria (1 patient)

•

en:increased urinary taurine

•

en:increased urinary 3-methylglutaconic acid

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased serum pyruvate

•

en:methioninuria

•

en:increased serum lactate (mild)

•

en:increased serum glycerol

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased serum, urinary, and csf lysine

•

en:increased prv-1 (162860) mrna

•

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

•

en:increased csf lactate

•

en:increased csf and plasma gaba

•

en:increased blood alanine

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

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

•

en:hypoproteinemia (in 1 patient)

•

en:hypoglycemia

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:microsomal hmg-coa reductase decreased

•

en:hypertriglyceridemia

•

en:prothrombin time increased

•

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

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

en:undetectable serum l-transferrin (homozygous patient)

•

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

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum triglycerides normal

•

en:serum transferrin glycosylation is normal

•

en:serum folate low

•

en:reticulocytosis

•

en:renin decreased

•

en:reduced serum uric acid

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:prolonged prothrombin time (pt)

•

en:mildly increased serum lactate

•

en:premature separation of centromeric heterochromatin

•

en:phytanic acid accumulation

•

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

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:no dicarboxylic aciduria

•

en:normal tyrosinase

•

en:normal to slightly elevated plasma cholesterol

•

en:normal sweat electrolytes

•

en:normal or mildly reduced sphingomyelinase activity

•

en:normal male karyotype (46,xy)

•

en:normal apoa-ii levels in homozygotes

•

en:mucopolysaccharidosis type iiid

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:hypofibrinogenemia

•

en:increased serum thyrotropin

•

en:hyperthreoninemia

•

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

•

en:decreased serum androgens

•

en:decreased mitochondrial complex iii activity seen in muscle

•

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

•

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

•

en:decreased glycerol kinase activity

•

en:decreased fibroblast beta-hexosaminidase

•

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

•

en:decreased apoa-i and apoa-ii

•

en:decreased activity of thiopurine s-methyltransferase

•

en:decreased activity of ppt1

•

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

•

en:decreased activity of dihydrofolate reductase

•

en:chromosomal instability

•

en:decreased serum iron (in some patients)

•

en:hyperlysinemia

•

en:androgens increased

•

en:aldolase a deficiency

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

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

•

en:absence of cd59 expression on red cells

•

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

•

en:abnormal oral glucose tolerance

•

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

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:2-aminoadipic aciduria

•

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

•

en:very low igm

•

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

•

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

•

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

•

en:fasting hypoglycemia (early in disease course)

•

en:defective glcnac-pi synthesis

•

en:hyperglycolic aciduria

•

en:hypercholesterolemia (reported in 2 patients)

•

en:hypercalciuria (in childhood)

•

en:hydrocortisone decreased

•

en:homocysteinemia (in some patients)

•

en:high m-component

•

en:green urine

•

en:glutaric acidemia type 1

•

en:galactosuria

•

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

•

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

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

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

•

en:elevated ferritin l subunit

•

en:defect in chylomicron secretion

•

en:elevated serum transferrin saturation

•

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

•

en:elevated blood spot hydroxybutyryl carnitine

•

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

•

en:elevated erythrocyte adenosine deaminase activity

•

en:elevated free carnitine

•

en:elevated il1-beta

•

en:elevated plasma cholestanol

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated sepiapterin in csf

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:normal serum folate levels

•

en:mild to moderate hyperammonemia

•

en:normal plasma phytanic acid

•

en:normal cerebrospinal fluid

•

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

•

en:myoglobinuria after exertion

•

en:multiple autoantibodies

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:mild elevation of cholesterol

•

en:mild-moderate prolonged bleeding time

•

en:methemoglobin concentration 12 to 19%

•

en:median mean platelet volume 13fl

•

en:low to very low hdl cholesterol

•

en:low plasma methionine

•

en:patient cells show increased chromosome breakage

•

en:normal urinary cyclic amp response to pth administration

•

en:uric acid normal

•

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

•

en:thyroid dyshormonogenesis 3

•

en:variably increased serum creatine kinase

•

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

•

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

•

en:upregulation of alpha-interferon-stimulated genes

•

en:undetectable epinephrine (adrenaline) in plasma, urine, csf

•

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

•

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

•

en:phosphaturia

•

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

•

en:serum prolactin increased

•

en:serum pristanic acid increased

•

en:serum creatine kinase 20-70 times normal

•

en:serum cholesterol low or normal

•

en:saposin a deficiency (finding)

•

en:plasma ammonia not elevated

•

en:low plasma free and total carnitine

◀

Génériques

[F] [H]

›

en:elevated

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845890 • caches: c1=30 c2=1968 c3=4

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