3-HYDROXYISOBUTYRIC ACIDURIA IN 2 BROTHERS

Two Japanese brothers with 3-hydroxyisobutyric aciduria (3HiB-uria) ar e studied, The elder brother died of a ketoacidotic episode at the age of 4 years; the younger brother also manifested repeated episodes of ketoacidosis after 1 year of age, He is diagnosed as having 3HiB-uria by gas chromatography/mass spectometry analysis, using the unique frag ment ions of 3HiB. Magnetic resonance imaging reveals focal white matt er abnormalities, Protein restriction is effective for preventing the ketoacidotic episodes, although carnitine therapy seems less effective . (C) 1998 by Elsevier Science Inc. All rights reserved.