carnitine palmitoyltransferase I deficiency
- 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, usually occurring after fasting or illness; onset is in infancy or early childhood.
Medical dictionary.
2011.
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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
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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… … 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