甲基丙二酸血症和非酮症高甘氨酸血症。临床与生化方面。
Methylmalonic acidaemia and nonketotic hyperglycinaemia. Clinical and biochemical aspects.
作者信息
Corbeel L, Tada K, Colombo J P, Eeckels R, Eggermont E, Jaeken J, Den Tandt W, Harvengt L, Delhaye J, Deloecker W
出版信息
Arch Dis Child. 1975 Feb;50(2):103-9. doi: 10.1136/adc.50.2.103.
The clinical and metabolic data of 2 cases of methylmalonic acidaemia with propionic acidaemia are reported together with those of 3 other patients with nonketotic hyperglycinaemia. Liver enzymatic studies showed decreased activity in vitro of the glycine cleavage enzyme in one patient with methylmalonic acidaemia as well as in 2 unrelated patients with nonketotic hyperglycinaemia, while the activity of the serine hydroxymethylase enzyme was normal. Hyperammonaemia was substantiated in one patient with methylmalonic acidaemia and also in one child with nonketotic hyperglycinaemia. The activity of the enzymes of the urea cycle, determined in the liver of this nonketotic child, was normal except for a decrease of the carbamyl phosphate synthetase enzyme to 15% of normal.
报告了2例甲基丙二酸血症合并丙酸血症患者以及另外3例非酮症高甘氨酸血症患者的临床和代谢数据。肝脏酶学研究显示，1例甲基丙二酸血症患者以及2例无关的非酮症高甘氨酸血症患者的甘氨酸裂解酶体外活性降低，而丝氨酸羟甲基化酶的活性正常。1例甲基丙二酸血症患者以及1例非酮症高甘氨酸血症患儿证实有高氨血症。在这名非酮症患儿的肝脏中测定的尿素循环酶活性正常，但氨甲酰磷酸合成酶活性降至正常的15%。
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