3-hydroxyisobutyric aciduria: An inborn error of valine metabolism

Fang Jong Ko, William L. Nyhan, Jon Wolff, Bruce Barshop, Lawrence Sweetman

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)322-326
Number of pages5
JournalPediatric Research
Issue number4
StatePublished - Oct 1991
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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