Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria.
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.
Chitayat
D
D
Division of Medical Genetics, Montreal Children's Hospital, Quebec, Canada.
Meagher-Villemure
K
K
Mamer
O A
OA
O'Gorman
A
A
Hoar
D I
DI
Silver
K
K
Scriver
C R
CR
D000653:Amniotic Fluid / Q000737:chemistry; D001921:Brain / Q000002:abnormalities*; D001927:Brain Diseases / Q000151:congenital* / Q000235:genetics; D002114:Calcinosis / Q000151:congenital* / Q000235:genetics; D003582:Cytogenetics; D016172:DNA Fingerprinting; D004200:Diseases in Twins; D006801:Humans; D006885:Hydroxybutyrates / Q000032:analysis / Q000652:urine*; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics; D016133:Polymerase Chain Reaction; D014430:Twins, Monozygotic
D006885:Hydroxybutyrates; C020757:3-hydroxyisobutyric acid