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Dev Med Child Neurol. 1998 Dec;40(12):840-2.

Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity.

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S Neuropediatria, Unitat Integrada Hospital Clínic-Sant Joan de Déu, Barcelona, Spain.


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.

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