Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
J Pediatr. 1992 Jul;121(1):86-9.

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

Author information

  • 1Division of Medical Genetics, Montreal Children's Hospital, Quebec, Canada.

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.

PMID:
1625099
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Write to the Help Desk