Methylmalonic Acidemia- A Rare Inborn Error of Metabolism

The methylmalonic acidemias (MMA) are a heterogeneous group of autosomal recessive inborn errors of organic acid metabolism. The hallmark of MMA is hyperammonemia, encephalopathy and metabolic acidosis in infancy and especially so in neonatal age group. Management of such cases is often challen...

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Bibliographic Details
Main Authors: Charusheela Sujit Korday, Rahul Ramnath Holkar, Shruti Sudhir Jadhav, Maaz Ahmed, Sushma Malik
Format: Article
Language:English
Published: JCDR Research and Publications Pvt. Ltd. 2016-04-01
Series:Indian Journal of Neonatal Medicine and Research
Subjects:
Online Access:http://www.ijnmr.net/articles/PDF/2126/4-%2017247_F(P)_PF1(Vsu_Om)_PFA(Om)_PF2(PVSU).pdf