Abstract
A 7 days old breastfed newborn was admitted because of progressive neurological detoriation. Hyperammonemia isovaleric acidemia (4,5 μmol/ml plasma) and large amounts of urinary isovalerylglycine were found. Isovaleric acid (IVA) and urine metabolites were closely monitored by mass fragmentography from admission until discharge. Laboratory data and clinical signs normalized within 6 days under a normo-caloric protein free diet and intermittent use of argininhydrochloride. The baby did well under the subsequent low leucine (155 mg/kg/d) diet (total protein 2.3 g/kg/d),IVA was about 30 nmol/ml plasma. A single leucine load (25 mg/kg) revealed an 5 fold increase of plasma-IVA within 3 hours. A mild hyperammonemia without ketoacidosis occured, clinically mild lethargy and odor developed. Simultaneous oral glycine (250 mg/kg) reduced this biochemical and clinical response. Simultaneous oral carnitine (250 mg/kg) showed a similar protective effect on leucine load.
Early diagnosis and therapy would appear to improve significantly the prognosis in neonatal isovaleric acidemia. Therapeutic trials may mimic internal compensatory mechanisms e.g. eliminating toxic IVA by conjugating to glycine or carnitine.
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Gabriel, M., Behbehant, A. & Hunneman, D. Comparison of glycine and carnitine effect in neonatal isovaleric acidemia. Pediatr Res 18, 806 (1984). https://doi.org/10.1203/00006450-198408000-00088
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DOI: https://doi.org/10.1203/00006450-198408000-00088