carnitine palmitoyltransferase II deficiency (DOID:0060235)
Alliance: disease page
Synonyms: CPT-II; infantile carnitine palmitoyltransferase II deficiency; late-onset carnitine palmitoyltransferase II deficiency; lethal neonatal carnitine palmitoyltransferase II deficiency
Alt IDs: OMIM:255110, OMIM:600649, OMIM:608836, MESH:C535589, NCI:C114766, ORDO:157, UMLS_CUI:C0342790
Definition: A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.