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carnitine palmitoyltransferase II deficiency

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description 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.
Disease Ontology Description A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.
Mondo Term and Equivalent IDs
MONDO:0015515:  carnitine palmitoyltransferase II deficiency
GARD:0001121: 
MESH:C535589: 
NCIT:C114766: 
Orphanet:157: 
SCTID:238002005: 
UMLS:C0342790: