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.
Original language | English (US) |
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Pages (from-to) | 322-326 |
Number of pages | 5 |
Journal | Pediatric Research |
Volume | 30 |
Issue number | 4 |
DOIs | |
State | Published - Oct 1991 |
Externally published | Yes |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health