The disease manifests itself during the early years of life with hepatomegaly, severe fasting hypoglycemia, bleeding diathesis, lactic acidemia, hyperlipidemia and hyperuricemia. Growth ...

Background Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often ...

What Are Inherited Metabolic Disorders? Inherited metabolic disorders are genetic conditions that result in metabolism problems. Most people with inherited metabolic disorders have a defective ...