Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia

indicates complete deficiency, and mut, which indicates partial deficiency [4]. MMA has been associated with various clinical phenotypes ranging from a benign condition to fatal neonatal disease [5]. Patients with mut often present ketoacidosis, lethargy, repeated vomiting, coma or even death, in the newborn period, and suffer from severe long-term complications such as renal failure and neurological impairments. On the other hand, patients with mut have a lower occurrence of mortality, morbidity, and long-term complications [5]. Cardiac disease is a known, yet rare, lethal complication of MMA [6,7] and it has been scarcely reported in the Asian population [7]. We report herein a novel MUT gene mutation in a Korean newborn with Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia