Article Text

PDF
P49 A novel p.v438sfs*3 (c.1311_1312insa) mutation in methylmalonyl-coa mutase gene in a newborn with severe methylmalonic acidemia
  1. DILEK DILLI1,
  2. DILARA DAG2,
  3. MUSTAFA KILIC3,
  4. SERDAR CEYLANER4,
  5. AHMET OZYAZICI1,
  6. AYSEGUL ZENCIROGLU1
  1. 1Department of Neonatology, Dr Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey
  2. 2Department of Paediatrics, Dr Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey
  3. 3Department of Metabolism, Dr Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey
  4. 4Intergen Genetics Centre, Ankara, Turkey

Abstract

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

Request permissions

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.