A Rare Case of Inborn Error of Metabolism - Isovaleric Acidemia
Journal Title: International Archives of Integrated Medicine - Year 2017, Vol 4, Issue 12
Abstract
Isovaleric Acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase (IVD) resulting in the accumulation of derivatives of isovaleryl-CoA. Early diagnosis and treatment with a protein restricted diet and supplementation with carnitine and glycine are effective in promoting normal development in severely affected individual. We report a case of 1.5 years old child with Isovaleric Acidemia with intact neurological outcome.
Authors and Affiliations
Vardhan Patel, Santosh Yadav, Mohit Sahni
Keywords
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