Carnitine palmitoyltransferase II deficiency (Q91975): Difference between revisions

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Latest revision as of 07:08, 16 August 2026

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).

Language	Label	Description	Also known as
default for all languages	ID_204058632
English	Carnitine palmitoyltransferase II deficiency	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).