carnitine palmitoyltransferase deficiency

carnitine palmitoyltransferase deficiency
car·ni·tine pal·mi·toyl·trans·fer·ase de·fi·cien·cy (kahrґnĭ-tēn pahl″mĭ-toil-transґfər-ās) metabolic disorders of long-chain fatty acid oxidation caused by mutations in the genes encoding carnitine palmitoyltransferase.

Medical dictionary. 2011.

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  • Carnitine palmitoyltransferase II deficiency — Classification and external resources Carnitine ICD 9 …   Wikipedia

  • Carnitine palmitoyltransferase II — Carnitine palmitoyltransferase II, also known as CPT2, is a human gene.cite web | title = Entrez Gene: CPT2 carnitine palmitoyltransferase II| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=1376| accessdate …   Wikipedia

  • Carnitine palmitoyltransferase I — carnitine palmitoyltransferase 1A (liver) Identifiers Symbol CPT1A Alt. symbols CPT1 Entrez 1374 …   Wikipedia

  • Carnitine palmitoyltransferase I deficiency — Infobox Disease Name = PAGENAME Caption = Carnitine DiseasesDB = 32535 ICD10 = ICD9 = ICD9|277.85 ICDO = OMIM = 255120 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 321 MeshName = MeshNumber = Carnitine palmitoyltransferase I deficiency is a …   Wikipedia

  • carnitine palmitoyltransferase I deficiency — a rare autosomal recessive disorder caused by mutations in the CPT1A gene (locus: 11q13), which encodes carnitine palmitoyltransferase IA. It is characterized by severe episodes of hypoketotic hypoglycemia, hepatomegaly, and encephalopathy,… …   Medical dictionary

  • carnitine palmitoyltransferase II deficiency — an autosomal recessive disorder caused by mutations in the CPT2 gene (locus: 1p32), which encodes carnitine palmitoyltransferase II; it occurs in 3 forms. The lethal neonatal and infantile forms are characterized by nonketotic hypoglycemia,… …   Medical dictionary

  • Deficit en carnitine palmitoyltransferase II — Déficit en carnitine palmitoyltransférase II Déficit en carnitine palmitoyltransférase II Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

  • Déficit En Carnitine Palmitoyltransférase II — Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

  • Déficit en carnitine palmitoyltransférase ii — Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

  • Déficit en carnitine palmitoyltransférase II — Référence MIM 255110 600649 Transmission Récessive Chromosome 1 p32 Gène CPT2 …   Wikipédia en Français

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