A Rare Case of Inborn Error of Metabolism - Isovaleric Acidemia

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.