Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity.
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.
Pineda
M
M
S Neuropediatria, Unitat Integrada Hospital Clínic-Sant Joan de Déu, Barcelona, Spain.
Ribes
A
A
Busquets
C
C
Vilaseca
M A
MA
Aracil
A
A
Christensen
E
E
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D008297:Male; D009679:Nuclear Family; D010088:Oxidoreductases / Q000378:metabolism*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D017354:Point Mutation
D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase