Methylmalonic Acidemia Two Cases Report

A two-day old male and an eleven-month old female infants manifested an unexplained, recurrent metabolic acidosis and increased anion gap. One of them progressed to lethargy, seizure and coma. By screen testing for methylmalonic acid in the urine, both were diagnosed as ”Methylmalonic Acidemia”. Both cases responded to the administration of vitamin B12 and a protein-restricted diet. The clinical manifestations, diagnosis and management as well as prenatal diagnosis of methylmalonic acidemia were reviewed briefly.