Abstract
Isovaleric acidemia secondary to isovaleryl-CoA dehydrogenase deficiency is a rare disorder of organic acid metabolism occuring in <1/200,000 live births. Since 1977, we have treated 7 patients with a low-protein diet and glycine, 250 mg/kg/day P.O., to enhance conversion of isovaleric acid to the readily-excreted conjugate, isovalerylglycine, and thereby reduce the burden of the toxic isovaleric acid. The long-term results of this glycine treatment on the frequency of ketoacidotic episodes (KA) and the developmental outcome are shown in the following table:
Although plasma glycine was markedly elevated in all, no ill effects secondary to glycine Rx were noted in any of the patients. Glycine Rx did not eliminate ketoacidotic episodes, but all acute toxic states were easily controlled with fluid, alkali and by increasing the dosage of glycine. Most importantly, none of the patients with neonatal or infantile-onset disease treated by 4 months of age were developmentally delayed or mentally retarded.
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Berry, G., Yudkoff, M. & Segal, S. EFFECT OF GLYCINE THERAPY ON DEVELOPMENTAL OUTCOME IN ISOVALERIC ACIDEMIA. Pediatr Res 18 (Suppl 4), 290 (1984). https://doi.org/10.1203/00006450-198404001-01184
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DOI: https://doi.org/10.1203/00006450-198404001-01184