" /> Carnitine palmitoyltransferase II deficiency - CISMeF





Preferred Label : Carnitine palmitoyltransferase II deficiency;

ICD-11 definition : Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms).;

ICD-11 synonym : CPT2 deficiency; CPT2 - [Carnitine palmitoyltransferase II] deficiency;

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Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms).

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28/05/2025


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