Article: article from journal or magazin.
Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria
Journal of Pediatrics
PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't
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
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
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