Goodman S I, Stein D E, Schlesinger S, Christensen E, Schwartz M, Greenberg C R, Elpeleg O N
Department of Pediatrics, University of Colorado Health Sciences Center, Denver 80262, USA.
Hum Mutat. 1998;12(3):141-4. doi: 10.1002/(SICI)1098-1004(1998)12:3<141::AID-HUMU1>3.0.CO;2-K.
Glutaric acidemia type I (GA1) is caused by mutations in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCD). Sixty-three pathogenic mutations identified by several laboratories are presented, 30 of them for the first time, together with data on expression in Escherichia coli and relationship to the clinical and biochemical phenotype. In brief, many GCD mutations cause GA1, but none is common. There is little if any relationship between genotype and clinical phenotype, but some mutations, even when heterozygous, seem especially common in patients with normal or only minimally elevated urine glutaric acid.
I型戊二酸血症（GA1）由编码戊二酰辅酶A脱氢酶（GCD）的基因突变引起。本文展示了多个实验室鉴定出的63种致病突变，其中30种为首次发现，并提供了在大肠杆菌中的表达数据以及与临床和生化表型的关系。简而言之，许多GCD突变会导致GA1，但没有一种是常见的。基因型与临床表型之间几乎没有关联，但有些突变即使是杂合状态，在尿戊二酸正常或仅轻度升高的患者中似乎特别常见。
