Hayasaka K, Tada K, Kikuchi G, Winter S, Nyhan W L
Pediatr Res. 1983 Dec;17(12):967-70. doi: 10.1203/00006450-198312000-00008.
The glycine cleavage system was investigated in the livers and brains of two patients with typical nonketotic hyperglycinemia who died in the neonatal period. The overall activity of the glycine cleavage system was found to be extremely low in both the liver and brain of each patient. In one patient, the disturbance of the glycine cleavage system was due to absence of activity of the P-protein. Immunochemical analysis indicated that this resulted from an absence of the enzyme protein. In the other patient, the activity of the T-protein was undetectable in the brain and was extremely low in the liver. Clinically classic nonketotic hyperglycinemia resulted from molecular defects in two different protein components of the glycine cleavage system.
对两名死于新生儿期的典型非酮症高甘氨酸血症患者的肝脏和大脑中的甘氨酸裂解系统进行了研究。发现每名患者的肝脏和大脑中甘氨酸裂解系统的总体活性极低。在一名患者中，甘氨酸裂解系统的紊乱是由于P蛋白缺乏活性所致。免疫化学分析表明，这是由于酶蛋白缺失所致。在另一名患者中，大脑中未检测到T蛋白的活性，肝脏中的活性极低。临床上典型的非酮症高甘氨酸血症是由甘氨酸裂解系统的两种不同蛋白质成分的分子缺陷引起的。
