Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type

Katta Mohan Girisha; Aroor Shrikiran; Abdul Mueed Bidchol; Osamu Sakamoto; Puthiya Mundyat Gopinath; Kapaettu Satyamoorthy

doi:10.4103/0971-6866.108025

Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type

Indian J Hum Genet. 2012 Sep;18(3):346-8. doi: 10.4103/0971-6866.108025.

Authors

Katta Mohan Girisha¹, Aroor Shrikiran, Abdul Mueed Bidchol, Osamu Sakamoto, Puthiya Mundyat Gopinath, Kapaettu Satyamoorthy

Affiliation

¹ Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.

Abstract

We report on a girl with methylmalonic acidemia, cblA type with a novel homozygous mutation and describe the clinical phenotype and response to therapy.

Keywords: Genetics; methylmalonic acidemia; mutation.

Publication types

Case Reports