Schwartz M, Christensen E, Superti-Furga A, Brandt N J
Department of Clinical Genetics, Juliane Marie Centre, University Hospital, Rigshospitalet, Copenhagen, Denmark.
Hum Genet. 1998 Apr;102(4):452-8. doi: 10.1007/s004390050720.
Glutaric acidemia type I (GAI) (McKusick 231670) is an autosomal recessive disease affecting the catabolism of the amino acids lysine, hydroxylysine and tryptophan, caused by a defect in the gene encoding glutaryl-coenzyme A dehydrogenase (GCDH) and associated with severe neurological symptoms. Several pathogenic mutations in GCDH have been reported to cause GAI. One mutation, R402W, is more common than the others, which seem to be private" mutations. Here we report the entire sequences of introns 1, 2, 3, 6, 7, 8 and 9, and part of those of introns 4, 5 and 10 as well as 21 different mutations in 20 patients with GAI, corresponding to 38 out of 40 alleles.
I型戊二酸血症（GAI）（麦库西克编号231670）是一种常染色体隐性疾病，影响赖氨酸、羟赖氨酸和色氨酸的氨基酸分解代谢，由编码戊二酰辅酶A脱氢酶（GCDH）的基因缺陷引起，并伴有严重的神经症状。据报道，GCDH中的几种致病突变会导致I型戊二酸血症。一种名为R402W的突变比其他突变更常见，其他突变似乎是“私人”突变。在这里，我们报告了20例I型戊二酸血症患者中内含子1、2、3、6、7、8和9的完整序列，以及内含子4、5和10的部分序列，还有21种不同的突变，对应40个等位基因中的38个。
