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

Détails

ID Serval
serval:BIB_C030504ADA76
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria
Périodique
Journal of Pediatrics
Auteur(s)
Chitayat  D., Meagher-Villemure  K., Mamer  O. A., O'Gorman  A., Hoar  D. I., Silver  K., Scriver  C. R.
ISSN
0022-3476 (Print)
Statut éditorial
Publié
Date de publication
1992
Volume
121
Numéro
1
Pages
86-89
Notes
PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't
Résumé
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
Mots-clé
Amniotic Fluid/chemistry/Brain/abnormalities/Brain Diseases/congenital/genetics/Calcinosis/Cytogenetics/DNA Fingerprinting/Diseases in Twins/Humans/Hydroxybutyrates/analysis/urine/Infant,Newborn/Male/Metabolism,Inborn Errors/Polymerase Chain Reaction/Twins,Monozygotic/Research
Pubmed
Web of science
Création de la notice
29/01/2008 18:36
Dernière modification de la notice
20/08/2019 15:34
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