Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1992 Jul;121(1):86-9.
doi: 10.1016/s0022-3476(05)82549-1.

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

D Chitayat  1 , K Meagher-Villemure, O A Mamer, A O'Gorman, D I Hoar, K Silver, C R Scriver
Affiliations
Case Reports

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

D Chitayat et al. J Pediatr. 1992 Jul.

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.

PubMed Disclaimer

Publication types