Catalog

Carnitine palmitoyltransferase II deficiency, neonatal form

No MMS code

Link to WHO Definition

Carnitine palmitoyltransferase II deficiency, neonatal form – http://id.who.int/icd/entity/1280842213

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.