3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism

Pediatr Res. 1991 Oct;30(4):322-6. doi: 10.1203/00006450-199110000-00006.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diet therapy
  • Amino Acid Metabolism, Inborn Errors / metabolism*
  • Child
  • Humans
  • Hydroxybutyrates / urine*
  • Male
  • Valine / metabolism*

Substances

  • Hydroxybutyrates
  • Valine
  • 3-hydroxyisobutyric acid