A severely brain-damaged case of 3-hydroxyisobutyric aciduria.
We report a male case of 3-hydroxyisobutyric aciduria (3HiB-uria) with severe brain damage. He had mild asphyxia at birth. He needed tube feeding for a month. He showed mild dysmorphic features, including low set ears, a long philtrum and micrognathia. At 4 months of age he had acute encephalopathy. Thereafter, severe brain damage remained and mechanical ventilation care was needed all day. After he had been admitted to our hospital at 3 years of age, repeated organic acid analysis of urine confirmed the diagnosis of 3HiB-uria. This patient had been previously diagnosed as having cerebral palsy and sequelae of acute encephalopathy.
Sasaki
M
M
Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, 187-8551, Tokyo, Japan.
Iwata
H
H
Sugai
K
K
Fukumizu
M
M
Kimura
M
M
Yamaguchi
S
S
D000138:Acidosis / Q000188:drug therapy / Q000652:urine*; D001925:Brain Damage, Chronic / Q000209:etiology*; D002648:Child; D006801:Humans; D006885:Hydroxybutyrates / Q000652:urine*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000188:drug therapy / Q000652:urine*
D006885:Hydroxybutyrates; C020757:3-hydroxyisobutyric acid