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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D O I：

暂无

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.

引用

页码：840 / 842

页数：3

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