At 1 month of age + Increased susceptibility to candidal infections

Stroke—

—At 1 month of age + Increased susceptibility to candidal infections: Methymalonic Acidemia

—At 2 year old + Lactic Acidosis + Encephalopathy: MELAS

—In the young + Osteoporosis + Ectopia Lentis: Homocystinuria