Nonketotic hyperglycinemia: clinical and metabolic aspects.
Nonketotic hyperglycinemia: clinical and metabolic aspects.
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非酮症高甘氨酸血症：临床和代谢方面。
DOI：
10.1159/000469187
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发表时间：
1987
期刊：
影响因子：
--
通讯作者：
K. Tada
中科院分区：
文献类型：
--
作者：
K. Tada
本文研究了16例非酮症型高糖血症（NKH）患者甘氨酸裂解系统的分子性质。研究发现，在所有肝脏和脑组织中，甘氨酸裂解系统的总体活性都降低了。它在新生儿型NKH中检测不到或极低，而在婴儿型NKH中有一些残留活性。因此，临床表型似乎确实与甘氨酸切割系统缺陷的程度有关。在新生儿型中，9例发现P蛋白特异性缺陷，2例发现T蛋白特异性缺陷。在婴儿型中，2例发现T蛋白部分缺陷。本文描述了NKH与酮症高血糖症的鉴别诊断。提供了绒毛膜绒毛活检产前诊断NKH的可行性。
The molecular nature of the glycine cleavage system was investigated in 16 patients with nonketotic hyperglycinemia (NKH). The overall activity of the glycine cleavage system was found to be decreased in all of the liver and brain tissue studied. It was undetectable or extremely low in the neonatal type of NKH, whereas there was some residual activity in the infantile type of NKH. Thus the clinical phenotypes do seem to relate to the degree of the defect in the glycine cleavage system. In the neonatal type, a specific defect in P protein was found in 9 cases and a specific defect in T protein in 2 cases. In the infantile type, a partial defect in T protein was found in 2 cases. Differential diagnosis between NKH and ketotic hyperglycinemia is described. A feasibility of prenatal diagnosis of NKH by chorionic villus biopsy is provided.