Toone J R, Applegarth D A, Coulter-Mackie M B, James E R
Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
Mol Genet Metab. 2000 Jun;70(2):116-21. doi: 10.1006/mgme.2000.3000.
The investigation of 14 unrelated patients with nonketotic hyperglycinemia led to the identification of mutations in 4 cases. Patients were initially categorized into probable P- or T-protein defects of the glycine cleavage enzyme complex, by the use of the glycine exchange assay without supplemental H-protein, then screened for mutations in the P-protein and T-protein genes, respectively.
对14例非酮症高甘氨酸血症的非亲缘患者进行调查后，在4例患者中发现了突变。首先，通过使用无补充H蛋白的甘氨酸交换试验，将患者初步分类为甘氨酸裂解酶复合物可能存在P蛋白或T蛋白缺陷，然后分别筛查P蛋白和T蛋白基因中的突变。
