3-Hydroxyisobutyric aciduria in two brothers.
Two Japanese brothers with 3-hydroxyisobutyric aciduria (3HiB-uria) are 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 fragment ions of 3HiB. Magnetic resonance imaging reveals focal white matter abnormalities. Protein restriction is effective for preventing the ketoacidotic episodes, although carnitine therapy seems less effective.
Sasaki
M
M
Department of Child Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
Kimura
M
M
Sugai
K
K
Hashimoto
T
T
Yamaguchi
S
S
D002675:Child, Preschool; D006801:Humans; D006885:Hydroxybutyrates / Q000652:urine*; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D014839:Vomiting / Q000652:urine*
D006885:Hydroxybutyrates; C020757:3-hydroxyisobutyric acid