Glutaric aciduria type I with high residual glutaryl‐CoA dehydrogenase activity
Glutaric aciduria type I with high residual glutaryl‐CoA dehydrogenase activity
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具有高残留戊二酰辅酶A脱氢酶活性的 I 型戊二酸尿症
DOI：
10.1111/j.1469-8749.1998.tb12362.x
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发表时间：
1998
影响因子：
3.8
通讯作者：
E. Christensen
中科院分区：
文献类型：
--
作者：
Mercedes Pineda;A. Ribes;C. Busquets;M. Vilaseca;A. Aracil;E. Christensen
两个患有肌张力障碍和基底神经节轻微MRI变化的兄弟的尿谷氨酸排泄正常，但3-羟基戊二酸和结合戊二酸排泄轻微增加。两个兄弟姐妹都具有高残留戊二酰辅酶A脱氢酶活性，并且是两个突变R227 P和V400 M的复合杂合子，据报道，这两个突变是I型谷氨酸尿症患者的致病原因。
Two brothers with dystonia and slight MRI changes in the basal ganglia had normal urinary glutaric acid excretion, but slightly increased 3‐hydioxyglutarate 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.