Abstract
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.
Keywords
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References
- Branched chain organic acidurias.in: Scriver C.R Beaudet A.R Sly W.S Valle D The metabolic and molecular basis of inherited disease. McGraw-Hill, New York1995: 1387-1422
- 3-Hydroxyisobutyric aciduria in two brothers.Pediatr Neurol. 1998; 18: 253-255
- 3-Hydroxyisobutyric aciduria with a mild clinical course.J Inherit Metab Dis. 1995; 18: 204-206
- 3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism.Pediatr Res. 1991; 30: 322-326
- Biochemical studies on a patient with a possible 3-hydroxyisobutyrate dehydrogenase deficiency.in: Proceedings of the Fifth International Congress of Inborn Errors of Metabolism. Society of Inherited Metabolic Disorders, Pacific Grove, CA1990: OC2.7
- Valine-related 3-hydroxyisobutyric aciduria in twins.Proc Soc Inherit Metab Dis. 1991; : 8
- Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: an inborn error of β-alanine, L-valine and L-alloisoleucine metabolism?.J Inherit Metab Dis. 1993; 16: 563-567
- Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria.J Pediatr. 1992; 121: 86-89
Article info
Publication history
Accepted:
February 8,
2001
Received in revised form:
December 7,
2000
Received:
August 31,
2000
Identification
Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
