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

Dev Med Child Neurol. 1998 Dec;40(12):840-2. doi: 10.1111/j.1469-8749.1998.tb12362.x.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / genetics
  • Amino Acid Metabolism, Inborn Errors / physiopathology*
  • Child
  • Glutarates / urine*
  • Glutaryl-CoA Dehydrogenase
  • Humans
  • Male
  • Nuclear Family
  • Oxidoreductases / metabolism*
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Point Mutation

Substances

  • Glutarates
  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • Glutaryl-CoA Dehydrogenase