Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria.

Abstract

Monozygotic male twins born to nonconsanguineous parents had dysmorphic facial features, microcephaly, migrational brain disorder, and congenital intracerebral calcification. They excreted excessive amounts of 3-hydroxyisobutyric acid, a metabolite of valine, and had evidence of impaired oxidative metabolism and metabolic acidosis. The level of 3-hydroxyisobutyrate in stored samples of midtrimester amniotic fluid was found to be high. The association of 3-hydroxyisobutyric aciduria with brain dysgenesis is a newly recognized mendelian disorder; its recurrence in a family at risk is potentially avoidable by prenatal diagnosis.

• Authors: D Chitayat, K Meagher-Villemure, O A Mamer, A O'Gorman, D I Hoar, K Silver, C R Scriver
• Journal: The Journal of pediatrics (J Pediatr) Vol. 121 Issue 1 Pg. 86-9 (Jul 1992) ISSN: 0022-3476 [Print] United States
• PMID: 1625099 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hydroxybutyrates
• 3-hydroxyisobutyric acid

Topics

• Amniotic Fluid (chemistry)
• Brain (abnormalities)
• Brain Diseases (congenital, genetics)
• Calcinosis (congenital, genetics)
• Cytogenetics
• DNA Fingerprinting
• Diseases in Twins
• Humans
• Hydroxybutyrates (analysis, urine)
• Infant, Newborn
• Male
• Metabolism, Inborn Errors (genetics)
• Polymerase Chain Reaction
• Twins, Monozygotic