carnitine palmitoyltransferase II deficiency

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, cardiac and liver anomalies, and early death. The late-onset or adult-onset form is the most common and is marked by rhabdomyolysis following prolonged exercise, fasting, or febrile illness.

Medical dictionary. 2011.

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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

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