title: 3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism.
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.
authors.affiliation: Department of Pediatrics, University of California San Diego, La Jolla 92093.
authors.forename: F J
authors.initials: FJ
authors.lastname: Ko
authors.forename: W L
authors.initials: WL
authors.lastname: Nyhan
authors.forename: J
authors.initials: J
authors.lastname: Wolff
authors.forename: B
authors.initials: B
authors.lastname: Barshop
authors.forename: L
authors.initials: L
authors.lastname: Sweetman
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy / Q000378:metabolism*; D002648:Child; D006801:Humans; D006885:Hydroxybutyrates / Q000652:urine*; D008297:Male; D014633:Valine / Q000378:metabolism*
chemical_list: D006885:Hydroxybutyrates; D014633:Valine; C020757:3-hydroxyisobutyric acid