Pediatr Res. 1991 Oct;30(4):322-6.

3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism.

Ko FJ, Nyhan WL, Wolff J, Barshop B, Sweetman L.

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Department of Pediatrics, University of California San Diego, La Jolla 92093.

Abstract

3-Hydroxyisobutyric aciduria, a disorder of valine metabolism, has been found in a boy in whom the clinical picture was that of a typical organic acidemia with repeated episodes of ketoacidosis requiring admission to hospital and parenteral fluid therapy, along with impressive failure to thrive and chronic lactic acidemia. The excretion of 3-hydroxyisobutyric acid ranged from 170 to 390 mmol/mol of creatinine. The administration of valine increased this to 18,700 mmol/mol of creatinine and reproduced the clinical picture of ketoacidosis. Concentrations of free carnitine were low, and esterified carnitine was elevated. Treatment with carnitine and a diet restricted in protein appeared to be beneficial.

PMID:: 1956714; [PubMed - indexed for MEDLINE]

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