Catalog

Carnitine palmitoyltransferase II deficiency

No MMS code

Link to WHO Definition

Carnitine palmitoyltransferase II deficiency – http://id.who.int/icd/entity/204058632

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).