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

被引：0
|
作者：
Pineda, M
Ribes, A
Busquets, C
Vilaseca, MA
Aracil, A
Christensen, E
机构：
[1] Hosp Clin St Joan Deu, Unitat Integrada, Barcelona, Spain
[2] Corp Sanitaria, Inst Bioquim Clin, Barcelona, Spain
[3] Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark
来源：
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY | 1998年 / 40卷 / 12期
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中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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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页码：840 / 842
页数：3
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