The causes of neonatal cholestasis can be categorized in anatomical extrahepatic obstructions of bile flow (such as choledochal malformations, cholelithiasis), genetic diseases, either multisystemic (Alagille syndrome, cystic fibrosis, galactosemia, mitochondrial diseases, and others) or exclusively hepatic (alpha-1-antitrypsin deficiency, bile acid synthesis defects, canalicular membrane transport protein defects, and others), endocrinologic disorders (hypocortisolism, hypothyroidism), or as secondary to other diseases (e.g., sepsis, congenital viral infection). The gene discussed is PSMA6; the disease is inborn mitochondrial metabolism disorder.