Diko : en:hypercholesterolemia (disorder)

en:hypercholesterolemia (disorder)

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C0020443

•

umls:C4015589

Inhib

⊗

›

goutte

(gouttelette)

•

goutte

(rien)

•

goutte

(eau-de-vie)

•

goutte

(héraldique)

•

goutte

(posologie)

•

goutte

(joaillerie)

•

goutte

(papeterie)

•

goutte

(architecture)

•

goutte

(petite quantité)

•

goutte

(fonderie)

•

fièvre

(surexcitation)

•

fièvre

(trouble de l'âme)

Associations d'idées

[F]

›

1000

en:seizures often associated with fever (63%)

•

en:abdominal obesity-metabolic syndrome 3

•

en:reticulocyte count increased

•

en:alpha ketoadipic aciduria

•

en:anti-factor viii positive

•

en:ceruloplasmin decreased

•

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

•

en:high serum guanosine levels

•

en:increased circulating renin level

•

en:increased plasma and urinary pipecolic acid

•

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

•

en:leukotriene c4 synthetase deficiency

•

en:reduced unsaturated serum cobalamin binding capacity

•

en:normal sweat chloride (3 of 3 patients)

•

en:history of hypercholesterolemia

•

en:increased csf protein during acute illness

•

en:proteinuria in those with cystic kidneys

•

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

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:abnormal liver enzymes (1 patient)

•

en:increased osmotic fragility

•

en:increased serum and csf lactate

•

en:iiga and igg antigliadin antibodies (aga)

•

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

•

en:contiguous gene deletion syndrome

•

en:bicarbonaturia

•

en:aminoaciduria

•

en:serum iron raised

•

en:4-hydroxyphenylpyruvic aciduria

•

en:absence of cd59 expression on red cells

•

en:bilirubin conjugated increased

•

en:decreased cerebrospinal fluid folic acid

•

en:hyperchloremic metabolic acidosis (hco3 15.5 +/- 2.0 mm)

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:intolerance to heat and fever

•

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

•

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

•

en:microscopic hematuria

•

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

•

en:neutrophilia, both basal and during infections

•

en:aneuploidy of the x chromosome

•

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

•

en:variably increased serum creatine kinase

•

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

•

en:elevated inflammatory markers

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:elevated erythrocyte aicar (zmp)

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:increased serum erythropoietin (epo, 133170)

•

en:little to absent aspartylglucosaminuria activity

•

en:normal plasma and tissue carnitine

•

en:no mucopolysacchariduria

•

en:orotic acid crystalluria

•

en:absent or severely reduced levels of serum immunoglobulins

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:chromosomal rearrangement

•

en:decreased phytanic acid oxidase activity

•

en:increased urinary excretion of camp

•

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

•

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

•

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

•

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

•

en:mitochondrial malic enzyme reduced

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:hypogammaglobulinemia (in some patients)

•

en:hypogammaglobulinemia

•

en:hyperprolinemia (10-15 times normal)

•

en:elevated 3-hydroxypropionic acid

•

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

•

en:increased serum ige

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased intracellular fmrp mrna

•

en:increased gamma-interferon

•

en:methylmalonic aciduria

•

en:increased cellular sensitivity to uv light

•

en:inappropriately low urine osmolality

•

en:hyperglycinuria (disorder)

•

en:fibroblasts attach poorly

•

en:defects in mitochondrial oxidative phosphorylation

•

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

•

en:increased tissue long-chain acylcarnitines

•

en:increased il6, episodic

•

en:no lactic acidosis

•

en:increased urinary fumaric acid

•

en:alkaline phosphatase serum increased

•

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

•

en:neonatal hypoglycemia

•

en:low csf creatine

•

en:intermittent dicarbonic aciduria

•

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

•

en:decreased lipid

•

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

•

en:hypochloremic metabolic alkalosis

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:abnormal liver function tests (in some patients)

•

en:sitosterolemia

•

en:urine odor, maple syrup

•

en:intermittent ethylmalonic aciduria

•

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

•

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

•

en:factor viii deficiency

•

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

•

en:hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial

•

en:elevated plasma phytanic acid

•

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

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:green serum

•

en:methylenetetrahydrofolate reductase deficiency

•

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

•

en:normal dermal hydroxylysine content

•

en:hematuria

•

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

•

en:normal apoa-ii levels in homozygotes

•

en:lactic acidosis (in some patients)

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:increased serum and urinary lactate

•

en:increased prevalence among the native american lumbee indians

•

en:hypokalemia

•

en:hereditary factor x deficiency

•

en:abnormal cholesterol homeostasis

•

en:decreased thrombospondin

•

en:decreased whole blood serotonin

•

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

•

en:direct coombs test negative

•

en:impaired platelet aggregation

•

en:increased serum creatine kinase (1 family)

•

en:increased urinary thiosulfate

•

en:low serum magnesium

•

en:increase urinary excretion of lysine, arginine, and ornithine

•

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

•

en:dhea sulfotransferase below limit of detection

•

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

•

en:hypoketotic hypoglycemia

•

en:increased plasma pipecolic acid

•

en:increased urinary oxylate

•

en:increased urinary s-sulfocysteine

•

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

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:increased csf pyruvic acid

•

en:increased alpha-fetoprotein (1 patient)

•

en:hypophosphatemia (less common)

•

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

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:elevated serum transferrin saturation

•

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

•

en:decreased or absent udp-glucuronyl-transferase activity

•

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

•

en:increased serum manganese

•

en:low cholesterol esterification rates

•

en:persistent ebv viremia

•

en:hawkinsinuria

•

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

•

en:normal erythrocyte gs activity

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:hyperthreoninuria

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:elevated calcitonin

•

en:decreased levels of serum vitamin b12

•

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

•

en:coombs positive hemolytic anemia

•

en:subtelomeric deletion of chromosome 16p

•

en:decreased urinary excretion of uromodulin

•

en:lactic acidosis during infection

•

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

•

en:very low igm

•

en:temperature instability

•

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

•

en:cortisol does not decrease on dexamethasone suppression test

•

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

•

en:decreased adiponectin

•

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

•

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

•

en:absence of hypertension

•

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

•

en:elevated biopterin in csf

•

en:agammaglobulinemia

•

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

•

en:antineutrophil cytoplasmic antibody

•

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

•

en:low serum acth

•

en:lack of excessive parenchymal iron storage

•

en:increased serum uric acid

•

en:unexplained fevers

•

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

•

en:female carriers show markedly skewed x inactivation

•

en:elevated ferritin l subunit

•

en:defect in chylomicron secretion

•

en:decreased neopterin and biopterin in csf

•

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

•

en:large spermatozoa

•

en:increased urinary vanillylmandelic acid (vma)

•

en:intolerant of heat

•

en:iron overload (in some patients)

•

en:ketonuria, acute

•

en:low-to-normal platelet count

•

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

•

en:low-molecular-weight proteinuria

•

en:metabolic acidosis in infancy (in some patients)

•

en:low or undetectable insulin

•

en:low plasma triglyceride level

•

en:low total serum protein

•

en:increased urinary uracil

•

en:increased bile acid intermediates (dhca and thca)

•

en:increased serum bile acids

•

en:increased urinary sulfatides

•

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

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased serum thyrotropin

•

en:increased serum lactate in acute stage

•

en:increased serum creatine kinase in acute stage

•

en:increased platelet aggregation with ristocetin

•

en:increased plasma homogentisic acid (hga)

•

en:increased nasal-potential difference (some)

•

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

•

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

•

en:increased il1b increased soluble il2r

•

en:increased histidine in blood, urine, and csf

•

en:microdeletion 22q11.2

•

en:methylglutaconic aciduria, mild

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

en:myelin basic protein measurement, spinal fluid

•

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

•

en:autosomal recessive hypercholesterolemia

•

en:ldl cholesterol lipoproteins

•

en:physiopathological

•

en:nutritional management

•

en:hyper ldl cholesterolaemia

•

en:vitamin b12 deficiency (in some patients)

•

en:urine uric acid decreased

•

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

•

en:type iii collagen defect

•

en:severe hypernatremia in neonatal period

•

en:serum folate normal

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:reduced ferrochelatase activity

•

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

•

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

•

en:n-glycosylation defect

•

en:normal serum transferrin profiles

•

en:neonatal or infantile metabolic ketoacidosis

•

en:normal calcium (female)

•

en:normal cerebrospinal fluid

•

en:normal csf neurotransmitters

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal plasma phytanic acid

•

en:normal to mildly increased serum creatine kinase

•

en:platelet factor 4 decreased

•

en:normal to slightly high alkaline phosphatase

•

en:no dicarboxylic aciduria

•

en:no evidence of perinatal infection

•

en:no hyperuricemia

•

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

•

en:phosphaturia may disappear after a long period of time

•

en:increased 11-deoxycorticosterone

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:impaired gluconeogenesis

•

en:citrullinemia

•

en:decreased plasma total and free carnitine

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

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

•

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

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased levels of plasma factor viii

•

en:decreased fibroblast beta-hexosaminidase

•

en:decreased csf hypocretin

•

en:decreased copper, iron, zinc

•

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

•

en:decreased activity of phosphoglycerate kinase 1

•

en:decreased activities of multiple sulfatases

•

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

•

en:blood glucose normal

•

en:decreased serum carnitine in acute stage

•

en:biotinidase deficiency

•

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

•

en:alpha 1 foetoprotein amniotic fluid increased

•

en:aldolase a deficiency

•

en:abnormal serum glycoproteins

•

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

•

en:abnormal nuclear morphology

•

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

•

en:abnormal acylcarnitine profiles

•

en:lipidemias

•

en:mixed hyperlipidemia (disorder)

•

en:fatty liver

•

en:hyperlipidemia

•

en:combined hyperlipidemia

•

en:decreased platelet derived growth factor

•

en:decreased serum free thyroxine

•

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

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:hypoinsulinemic hypoglycemia

•

en:hypoglycemia, leucine-induced

•

en:hypofibrinogenemia

•

en:hyperkalemia during attacks

•

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

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:high urinary copper

•

en:high sweat electrolyte

•

en:hepatic gamma-cystathionase deficiency

•

en:hepatic argininosuccinate synthetase deficiency

•

en:hematuria, gross and microscopic

•

en:glutaric acidemia type 1

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:foam cells in bone marrow and renal glomeruli

•

en:decreased serum thiamine pyrophosphate

•

en:elevated ammonia

•

en:decreased serum vitamin a

•

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

•

en:dyskinetic ciliary motility

•

en:electrolyte disturbances from intractable diarrhea

•

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

•

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

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:fluorescence of red blood cells by uv microscopy

•

en:elevated creatine kinase (in some patients)

•

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

•

en:elevated fibroblast free sialic acid

•

en:elevated plasma cholestanol

•

en:elevated sweat chloride

•

en:fasting ketosis

•

en:decreased hdl cholesterol

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:other disorders of lipoid metabolism

•

en:increased serum growth hormone levels

•

en:markedly reduced igg levels

•

en:lysyl hydroxylase deficiency

•

en:low to normal serum calcium

•

en:low serum alpha-fetoprotein (recessive)

•

en:low free carnitine

•

en:liver phosphorylase kinase (phk) deficiency

•

en:lactic acidosis in e3-deficiency

•

en:iron deficiency

•

en:increased urine oligosaccharides

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary 2-oxoglutaric acid

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased serum vitamin b12

•

en:increased serum lactate hydrogenase

•

en:increased serum fgf23

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:increased serum creatine kinase during episodes

•

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

•

en:increased serum alanine (1 patient)

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

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

•

en:increased fas ligand

•

en:increased disialo- and asialotransferrin

•

en:increased csf lactate during acute episodes

•

en:increased csf and plasma ghb

•

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

•

en:increased 11-deoxycortisol

•

en:impairment of urinary concentration

•

en:immunoglobulin antibodies present

•

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

•

en:myoglobinuria

•

en:normal iga levels

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:reduced total and free carnitine in plasma and tissue

•

en:in urine

•

en:abetalipoproteinemia

•

en:ethnologic

•

en:enzymology

•

en:very low leptin level

•

en:uremia

•

en:tyrosine iodination defect

•

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

•

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

•

en:severe lactic acidosis

•

en:serum creatine kinase may be normal

•

en:serum bilirubin increased

•

en:reye-like episode

•

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

•

en:pyruvic acidemia

•

en:normal or increased serum phosphate

•

en:no increased sensitivity to oxidative species

•

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

•

en:normal phytanic acid

•

en:normal prolyl 4-hydroxylase activity

•

en:normal serum liver enzymes

•

en:normal serum phosphorus

•

en:normal to slightly elevated plasma cholesterol

•

en:paraproteinemia

•

en:pyrimidinuria

•

en:partial deficiency of factor xiii(c)

•

en:phosphorylase kinase normal in muscle

•

en:platelet aggregation decreased

•

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

•

en:premature separation of centromeric heterochromatin

•

en:prolinuria

•

en:hyposthenuria (inability to concentrate urine normally)

•

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

•

en:hypokalemia during periodic paralysis (most patients)

•

en:decreased apoa-i and apoa-ii

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:decreased serum rt3

•

en:decreased serum b12 levels

•

en:decreased serum and muscle coenzyme q

•

en:decreased secretion of igf1 in response to gh administration

•

en:decreased plasma zinc levels

•

en:decreased plasma gonadotrophin

•

en:decreased or absent pts activity

•

en:decreased or absent ciliary motility

•

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

•

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

•

en:decreased leptin

•

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

•

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

•

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

•

en:decreased tissue total and free carnitine

•

en:acylglycinuria

•

en:fredrickson type v lipidemia

•

en:abnormal bone marrow karyotype, t(8,21)

•

en:hyperthermia

•

en:abnormal liver enzymes, intermittent

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

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

•

en:amylo-1,6-glucosidase deficiency

•

en:creatine decreased

•

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

•

en:a subset of patients may have subtle increases in blood lactate

•

en:bilirubin may or may not be increased

•

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

•

en:cells show increased sensitivity to ionizing radiation

•

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

•

en:decreased tetrasialotransferrin levels

•

en:decreased glutamine in bodily fluids

•

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

•

en:elevated urinary pge(2) levels

•

en:hypermagnesemia

•

en:hyperglycemia during crises

•

en:hyperarginemia

•

en:hydantoin toxicity

•

en:homozygous 122kb deletion 11p15-p14

•

en:hemizygous deletion at 4p16.3

•

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

•

en:glycosuria

•

en:glycogen storage disease type vi

•

en:gamma-glutamylcysteine deficiency

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

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

•

en:epstein-barr viraemia

•

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

•

en:fibronectin decreased

•

en:elevated urinary epinephrine

•

en:elevated erythrocyte adenosine deaminase activity

•

en:diabetes, nonautoimmune (rare)

•

en:dilated rough endoplasmic reticulum (rer)

•

en:elevated serum uric acid concentrations

•

en:direct hyperbilirubinemia

•

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

•

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

•

en:elevated low-density lipoprotein

•

en:elevated plasma acth

•

en:elevated plasma methionine (methioninemia)

•

en:elevated progesterone

•

en:elevated sed rate

•

en:elevated serum alpha-fetoprotein

•

en:hyperpyrexia, usually associated with anesthesia

•

en:low 25-oh-vitamin d level

•

en:low urinary cyclic amp response to pth administration

•

en:liver function tests normal

•

en:low growth hormone levels

•

en:low leukocyte alkaline phosphatase activity

•

en:low serum ceruloplasmin

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:median mean platelet volume (mpv) 20fl

•

en:metabolic acidosis

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:mildly elevated creatine phosphokinase

•

en:myoglobinuria with extreme exertion

•

en:lack of ciliary motility

•

en:lactic acidosis, may be mild

•

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

•

en:intracellular granular material on ultrastructural analysis

•

en:increased serum ammonia (group b)

•

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

•

en:normal-to-decreased plasma glycine (fasting)

•

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

•

en:increased disialotransferrin and asialotransferrin levels

•

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

•

en:increased pyruvate in serum and csf

•

en:increased serum and csf glycine

•

en:increased urinary prostaglandin e2

•

en:increased serum triglycerides (in some patients)

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased urinary cortisol/cortisone ratio

•

en:increased urinary dihydropyrimidines

•

en:increased urinary magnesium

•

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

•

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

•

en:unexplained fevers (2 patients)

•

en:normal exocrine pancreatic function

•

en:transferase deficiency galactosemia

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:serum phosphate normal

•

en:serum prolactin decreased

•

en:serum thiamine is normal

•

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

•

en:smooth muscle antibodies positive

•

en:transient eosinophilia in first decade

•

en:serum bicarbonate increased

•

en:transient neonatal hypoglycemia (2p21del)

•

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

•

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

•

en:upregulation of alpha-interferon-stimulated genes

•

en:urine cortisol, increased

•

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

•

en:serum creatine kinase may be normal or elevated

•

en:saccharopine dehydrogenase deficiency

•

en:normal or mildly increased serum creatine kinase

•

en:predominance of the d-stereoisomer

•

en:normal renin level

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:normal serum parathyroid hormone (pth)

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:plasma aldosterone increased

•

en:polydipsia (in some patients)

•

en:prolonged bleeding time

•

en:rheumatoid factor positive (finding)

•

en:prolonged partial thromboplastin time

•

en:pyruvate-induced insulin secretion

•

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

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:respiratory alkalosis

•

en:increased biopterin in urine and csf

•

en:lipomatosis

•

en:immunoglobulin a decreased

•

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

•

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

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:decreased or absent serum citrulline

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:decreased dermal hydroxylysine content

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

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

•

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

•

en:decreased acetyl-coa carboxylase activity

•

en:creatine phosphokinase increased

•

en:continuous urinary iodine loss

•

en:complex organic aciduria

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:calciuria

•

en:decreased serum factor h (atypical hus)

•

en:absent axonal flare response after intradermal histamine injection

•

en:very long chain fatty acid accumulation

•

en:primary hypercholesterolemia

•

en:elevated 8-dehydrocholesterol

•

en:fredrickson type i lipidemia

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

en:abnormal n-glycosylation of transferrin

•

en:absent ch50 activity in complete c4 deficiency

•

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

•

en:absent or abnormal thyroglobulin

•

en:adult fanconi syndrome

•

en:alanine aminotransferase increased

•

en:amyloidosis, (iowa type 107680.0010, nonneuropathic 107680.0016)

•

en:anomalies of cholesterol levels

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:decreased renal calcium excretion

•

en:decreased serum leptin

•

en:hypoxemia

•

en:hyperchloremia (mean 111 mm)

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

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

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:high urinary orotic acid

•

en:homocysteinemia

•

en:hyperammonemia, episodic

•

en:hyperchloremic metabolic acidosis, mild, in some cases (hco3 22.4 +/- 4.6 mm)

•

en:galactosuria without galactosemia

•

en:hyperglycinemia

•

en:hyperlysinemia

•

en:hyperthreoninemia

•

en:hypertonic dehydration

•

en:hypertriglyceridemia (rare)

•

en:hypophosphatemic rickets

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:decreased serum thyroxine (t4)

•

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

•

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

•

en:deficiency or absence of p91-phox protein

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

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

•

en:elevated 3-methylcitric acid

•

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

•

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

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

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

•

en:elevated long chain fatty acids

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated plasma and urine succinylacetone

•

en:elevated urinary mevalonic acid

•

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

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:normal or mildly reduced sphingomyelinase activity

•

en:aspects of radionuclide imaging

•

en:iodine depletion

•

en:normal red cell counts

•

en:normal n-glycan analysis

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

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

•

en:mitochondrial complex i deficiency in muscle

•

en:mildly elevated hepatic enzymes

•

en:mephenytoin hydroxylation defect

•

en:low plasma tryptophan (inflammatory type b)

•

en:low or absent iga levels

•

en:low-normal igm

•

en:long-chain dicarboxylic aciduria

•

en:life-threatening metabolic decompensation

•

en:leukocytosis

•

en:iron low

•

en:intermittent severe hypoglycemia (in some patients)

•

en:normal serum plasmalogen

•

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

•

en:impaired oxidation of pyruvate

•

en:inappropriately increased urine osmolality

•

en:increased prv-1 (162860) mrna

•

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

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:increased serum direct bilirubin

•

en:increased serum transferrin

•

en:increased urinary neopterin

•

en:increased sweating due to hyperthyroidism

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased urinary 3-methylglutaconic acid

•

en:increased urinary excretion of cystine

•

en:increased urinary hydroxyisovaleric acid

•

en:increased urinary malic acid

•

en:normal serum complement levels

•

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

•

en:impaired creatine uptake in fibroblasts

•

en:variable respiratory chain enzyme deficiency

•

en:spongy degeneration of brain on histology

•

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

•

en:thyroid dyshormonogenesis 3

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

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

•

en:vitamin k deficiency

•

en:serum phosphate concentration below normal

•

en:xanthine nephrolithiasis

•

en:exogenous hyperlipidemia

•

en:chemically induced

•

en:complication aspects

•

en:high density lipoprotein cholesterol

•

en:embryologic

•

en:serum prolactin increased

•

en:serum iron normal

•

en:no elevation of free fatty acids

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:no hematuria

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:phospholipid antibody positive

•

en:plasma triglycerides increased

•

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

•

en:polydipsia (in some)

•

en:serum cholesterol low or normal

•

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

•

en:prolonged partial thromboplastin time (ptt)

•

en:proximal renal tubular acidosis

•

en:pseudohypertriglyceridemia in adult form

•

en:reduced beating amplitudes in cilia

•

en:serum aldosterone elevated

•

en:impaired glucose tolerance (in some patients)

•

en:urocanase deficiency

•

en:hypoproteinemia

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:decreased axonal flare response after intradermal histamine injection

•

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

•

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

•

en:decreased csf folate

•

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

•

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

•

en:decreased eno3 activity

•

en:decreased fibroblast iduronate sulfatase

•

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

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:decreased nk cells (in some patients)

•

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

•

en:decreased activity of cytochrome c oxidase in muscle and fibroblasts

•

en:cytoplasmic lamellar concentric inclusions

•

en:decreased serum 25-hydroxyvitamin d

•

en:absence of chylomicrons in lymph and plasma

•

en:therapeutic aspects

•

en:hypokalemic metabolic alkalosis

•

en:abnormal lipid profile

•

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

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:abnormal oral glucose tolerance

•

en:alpha fetoprotein increased

•

en:cystathioninemia

•

en:azotemia

•

en:b lymphocytopenia

•

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

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:coarse metachromatic granules in white blood cells

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:decreased red cell pyruvate kinase activity

•

en:abnormal myelination in sural nerve biopsies

•

en:decreased serum factor i (atypical hus)

•

en:foam cells in visceral organs and cns

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:hypokalemic alkalosis

•

en:hypoglycorrhachia (low glucose in csf)

•

en:hypoglycemia, episodic, in infants

•

en:hyperornithinemia

•

en:hypernatremic dehydration

•

en:hyperlipoproteinemia type iib

•

en:hyperkalemia

•

en:hyperammonemia after protein intake

•

en:hereditary xanthinuria

•

en:hepatic argininosuccinase deficiency

•

en:glycinuria

•

en:fumarase deficiency

•

en:fucosidosis

•

en:hyperuricosuria

•

en:extremely low creatine excretion

•

en:diminished lymphocyte response to phytohemaglutinin

•

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

•

en:episodic ketoacidosis

•

en:decreased transferrin increased serum iron

•

en:decrease plasma serine (fasting)

•

en:deficiency of fructokinase

•

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

•

en:deficient efflux of intracellular cholesterol

•

en:hypoglycosylation of plasma glycoproteins

•

en:elevated liver function tests

•

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

•

en:disseminated intravascular coagulation

•

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

•

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

•

en:elevated bilirubin (bilirubinemia)

•

en:elevated pyruvate (in most patients)

•

en:hypokalemia during attacks

•

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

•

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

•

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

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased urinary 3-oh-propionic acid

•

en:increased urinary mannose-containing oligosaccharides

•

en:increased urinary hypoxanthine

•

en:increased urinary ketones

•

en:increased urine porphyrins at times

•

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

•

en:iodide organification defect

•

en:lactic acidemia

•

en:increased serum lipoproteins

•

en:increased serum citrulline (group b)

•

en:increased serum gm-csf

•

en:increased serum glycerol

•

en:increased plasma pristanic acid

•

en:increased lysine in serum and csf

•

en:increased levels of carcinoembryonic antigen

•

en:increased lactate in spinal fluid

•

en:increased csf threonine

•

en:increased csf homovanillic acid (hva)

•

en:increased csf glycine

•

en:increased body temperature, episodic, in some patients

•

en:iga antiendomysial antibodies (ema)

•

en:low fasting glucose (in some patients)

•

en:hyposialylation of o-linked serum glycans

•

en:increased igm level

•

en:normal or increased serum phytanic acid

•

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

•

en:normal pyridinoline excretion in urine

•

en:reduced iga

•

en:hypoglycemia, acute

•

en:recurrent fevers

•

en:raised c-reactive protein

•

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

•

en:prolidase deficiency

•

en:presence of vacuoles on muscle biopsy

•

en:paroxysmal sweating

•

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

•

en:panhypogammaglobulinemia

•

en:normal urinary cyclic amp response to pth administration

•

en:normal to elevated total plasma carnitine

•

en:normal total urinary coproporphyrin

•

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

•

en:low serum alkaline phosphatase in heterozygotes

•

en:normal plasma total homocysteine

•

en:normal male karyotype (46,xy)

•

en:normal igg levels

•

en:normal concentration of parathyroid hormone

•

en:normal aldosterone

•

en:neonatal hypocalcemia

•

en:multiple autoantibodies

•

en:mildly elevated acth

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:metabolic acidosis (transient, resolves in infancy)

•

en:metabolic acidosis, severe

•

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

•

en:lysosomal-like storage vacuoles in various tissues

•

en:low to normal plasma methionine

•

en:hypoglycemia, fasting

•

en:decreased nasal nitric oxide

•

en:hyperprostaglandinuria

•

en:arginine deficiency

•

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

•

en:decreased fumarate hydratase activity

•

en:decreased csf pyridoxal

•

en:decreased csf glycine

•

en:decreased antithrombin iii (rare)

•

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

•

en:decreased activity of mitochondrial respiratory complexes

•

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

•

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

•

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

•

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

•

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

•

en:borderline elevated low-density lipoprotein

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:decreased numbers of t regulatory cells

•

en:antineutrophil antibody positivity

•

en:alkaline phosphatase normal

•

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

•

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

•

en:absent alkyl-dhap synthase activity

•

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

•

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

•

en:abnormal liver function test

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:serum lipid abnormal nos

•

en:elevated 7-dehydrocholesterol

•

en:hyperlipidemia, group a

•

en:routine liver function tests normal

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

en:decreased plasma and urinary ornithine

•

en:hypercholesterolemia (10%)

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:hereditary angioedema

•

en:glycogen storage disease type v

•

en:glycoamino aciduria

•

en:gaucher disease, type 1

•

en:galactosemia

•

en:fever of central origin

•

en:fever episodes last from 3 to 10 days

•

en:fever, intermittent, recurrent (in some)

•

en:ferritin decreased

•

en:excessive urinary 5-oxo-l-proline

•

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

•

en:episodic metabolic acidosis

•

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

•

en:elevated propionate

•

en:decreased serum cholesterol (in some)

•

en:elevated plasma insulin

•

en:elevated liver transaminases

•

en:elevated il6

•

en:elevated hepatic transaminases

•

en:elevated gastrin concentration

•

en:elevated csf/plasma glycine ratio

•

en:dehydration

•

en:defect in mitochondrial and peroxisomal fission

•

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

•

en:decreased ubiquinone-10

•

en:decreased triiodothyronine level

•

en:decreased tetrasialo-transferrin

•

en:decreased serum luteinizing hormone (lh)

•

en:respiratory epithelial show lack of ciliary movement or abnormal movement

•

en:hypoxia

•

en:serum osmolality decreased

•

en:increased serum total cholesterol

•

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

•

en:low or absent adrenocorticotropic hormone (acth)

•

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

•

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

•

en:inner and outer dynein arm defects, variable

•

en:increased urinary urate

•

en:increased urinary tricarboxylic acid intermediates

•

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

•

en:increased urinary hga

•

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

•

en:increased urinary dicarboxylic acid, transient

•

en:increased urinary carnitine esters

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased serum bilirubin due to hemolysis

•

en:low plasma free and total carnitine

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased il18

•

en:increased il-6

•

en:increased igg level

•

en:increased hepatic parenchymal cell stainable iron

•

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

•

en:increased fractional excretion of uric acid

•

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

•

en:incomplete n-glycosylation of cellular proteins

•

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

•

en:hypophosphatemia (in some patients)

•

en:hypoketotic hypoglycemia under fasting conditions

•

en:hypocalcemia

•

en:low plasma arginine

•

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

•

en:hypergammaglobulinemia

•

en:pms show impaired metabolism of debrisoquine and related drugs

•

en:serum cholesterol measurement

•

en:very low igg

•

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

•

en:urinary excretion of sialylated oligosaccharides

•

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

•

en:unexplained fever (in some patients)

•

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

•

en:some fragmented or disrupted golgi

•

en:serum transferrin glycosylation is normal

•

en:serum copper decreased

•

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

•

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

•

en:raised tsh level

•

en:platelet function test normal

•

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

•

en:periodic fever, luteal phase-dependent (in some patients)

•

en:pentagastrin stimulation test

•

en:pcs involves most of all chromosomes of a metaphase

•

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

•

en:no metabolic abnormalities

•

en:no hyperphenylalaninemia

•

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

•

en:normal serum bile acids

•

en:normal serum 25-hydroxyvitamin d3

•

en:normal sedimentation rate

•

en:normal plasma glycerol level at rest

•

en:normal isoelectric focusing of serum transferrin

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:hypermethioninemia, progressive

•

en:hypercholesterolemia (in 75%)

•

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

•

en:abnormal karyotype in 3 patients involving distal 6p

•

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

•

en:decreased activity of 2-oxoacid dehydrogenases

•

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

•

en:cholesterol low

•

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

•

en:broad tissue deposition of amylopectin-like material

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:albuminuria

•

en:adrenocorticotropic hormone, increased

•

en:absent/reduced free proteins and absent total protein s

•

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

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abnormal liver enzymes (rare)

•

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

•

en:decreased basal metabolic rate

•

en:abnormality of temperature regulation

•

en:5-hiaa csf may be normal or decreased

•

en:4-hydroxyphenylacetic aciduria

•

en:remnant hyperlipidemia

•

en:borderline hypercholesterolaemia

•

en:serum cholesterol raised

•

en:pathological aspects

•

en:cholesterol

•

en:increased lipid

•

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

•

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

•

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

•

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

•

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

•

en:decreased dna excision repair

•

en:hypercalcemia

•

en:elevated cerebrospinal fluid (csf) protein

•

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

•

en:homocitrullinuria

•

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

•

en:high fever (38-41 degrees centigrade), recurrent with each menstrual cycle

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

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

•

en:glycogen accumulation in both liver and muscle

•

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

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:fever, high grade

•

en:elevated urinary hyaluronic acid levels

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:elevated prothrombin time

•

en:elevated alpha-ketoglutarate (in most patients)

•

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

•

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

•

en:electrocardiogram abnormal

•

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

•

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

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

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

•

en:decreased von willebrand factor

•

en:decreased t cells

•

en:decreased thyroxine level

•

en:decreased serum trypsinogen

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:decreased long-chain fatty acid oxidation

•

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

•

en:decreased hepatic gaba transaminase activity

•

hypercholestérolémique

◀

Génériques

[F] [H]

›

en:disease or syndrome

Spécifiques

›

en:cholesterol blood increased

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846056 • caches: c1=24 c2=1025 c3=3

+/-

♥

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]