AB164. Methylmalonic acidemia/propionic acidemia in Taiwan

Background Methylmalonic acidemia (MMA) comprises a heterogeneous group of disorders, which are characterized by accumulation of methylmalonate in the body due to deficiency of methylmalonyl/proprionic coenzyme A mutase or defects in the uptake, transport or synthesis of 5'-deoxyadenosylcobalamin. Propionic acidemia (PA) refers to propionyl-CoA carboxylase deficiency. Most these patients might have very-early onset signs and symptoms that occur even before the results of newborn screening (NBS) are available, and die immediately or survive with significant neurodevelopmental disability. The associative outcome of MMA/PA was scarcely reported in Asia.