DISEASES

Disease-gene associations mined from literature

Human genes for systemic primary carnitine deficiency disease

Systemic primary carnitine deficiency disease [DOID:14365]

Carnitine palmitoyltransferase II deficiency (CPT-II) is a metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source.

Synonyms:  systemic primary carnitine deficiency disease,  DOID:14365,  systemic primary carnitine deficiency disorder,  systemic primary carnitine deficiency syndrome,  carnitine transporter deficiency ...