Methylmalonic academia (MMA) is a rare form of organic acidemias characterised by an inborn error of methylmalonate and cobalamin metabolism. The most of MMA cases are caused by mutations in the methylmalonyl-CoA mutase (MUT) gene. The MUT gene encodes the enzyme MUT that converts l-methylmalonyl-CoA to succinyl-CoA. Partial or complete enzyme deficiency occurs because of the mutations in the MUT gene. As a result, methylmalonyl acid and other potentially toxic compounds accumulate in the tissues, leading to signs and symptoms of MMA. Here, we report a novel p.V438Sfs*3 (c.1311_1312InsA) mutation in MUT gene in a newborn with severe MMA.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.