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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.

    Pineda M, Ribes A, Busquets C, Vilaseca MA, Aracil A, Christensen E.

    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.

    PMID: 9881681 [PubMed - indexed for MEDLINE]

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    Cited by 1 PubMed Central article

    • ReviewGlutaric acidemia type 1.

      Hedlund GL, Longo N, Pasquali M. Am J Med Genet C Semin Med Genet. 2006 May 15; 142C(2):86-94.

      [Am J Med Genet C Semin Med Genet. 2006]

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