Methylmalonic Acidemia- A Rare Inborn Error of Metabolism

• Main Authors: Charusheela Sujit Korday (Author), Rahul Ramnath Holkar (Author), Shruti Sudhir Jadhav (Author), Maaz Ahmed (Author), Sushma Malik (Author)
• Format: Book
• Published: JCDR Research and Publications Pvt. Ltd., 2016-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 challenging...