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Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity
M Pineda1, A Ribes, C Busquets
1S Neuropediatria, Unitat Integrada Hospital Clínic-Sant Joan de Déu, Barcelona, Spain.
Developmental Medicine and Child Neurology
|January 9, 1999
Abstract:
Two brothers with dystonia and slight MRI changes in the basal ganglia had normal urinary glutaric acid excretion, but slightly increased 3-hydroxyglutarate and conjugated glutarate excretions. Both siblings have high residual glutaryl-CoA dehydrogenase activity, and are compound heterozygotes for two mutations - R227P and V400M reported to be disease-causing in patients with glutaric aciduria type I.