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isovaleric acidaemia

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Isovaleric acidaemia is an inborn error of amino acid metabolism where isovaleryl CoA dehydrogenase is absent.

Presenation is with vomiting and lethargy which may progress to convulsions, coma and death. There is a characteristic smell of sweaty feet.

Treatment involves supportive measures and administration of glycine, which conjugates isovaleryl CoA.

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