carnitine palmitoyltransferase II deficiency

Rare Disease

MONDO:0015515

Also Known As

CPT II deficiencyCPT-IICPT2CPTIICarnitine palmitoyltransferase deficiency type 2carnitine palmitoyltransferase II deficiencyinfantile carnitine palmitoyltransferase II deficiencylate-onset carnitine palmitoyltransferase II deficiencylethal neonatal carnitine palmitoyltransferase II deficiencyCarnitine palmitoyltransferase 2 deficiencyCarnitine palmitoyltransferase II (CPT II) deficiency

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.