Late-Onset Isovaleric Acidemia

is caused by a deficit in isovaleryl CoA dehydrogenase which affects leucine metabolism. Apart from the classical early onset form with vomiting, dehydration, and coma, a spectrum of late onset forms exist with failure to thrive, developmental delay and intermitted acidotic crises. Patients have a characteristic odour caused by the accumulation of isovaleric acid in body fluids and which is most pronounced during metabolic decompensations.

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