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Isovalericacidemia is caused by a deficit in isovaleryl CoA dehydrogenase which affects leucine metabolism. The disease is transmitted by autosomal recessive inheritance. The estimated prevalence in the general population of Europe is 1/100 000. As of the first days of life, newborns can present vomiting, dehydration, coma and abnormal movements. Biological examinations show metabolic acidosis with ketosis, hyperammonemia, neutropenia, thrombopenia, hypocalcemia. Treatment is based on a moderate restriction of proteins in the diet and oral administration of glycine and carnitine which assure effective clearance of isovaleryl CoA. |