高甘氨酸血症患者中甘氨酸脱羧酶的表达受损。
The impaired expression of glycine decarboxylase in patients with hyperglycinemias.
作者信息
Kume A, Kure S, Tada K, Hiraga K
机构信息
The Department of Biochemistry, Toyama Medical and Pharmaceutical University School of Medicine, Japan.
出版信息
Biochem Biophys Res Commun. 1988 Jul 15;154(1):292-7. doi: 10.1016/0006-291x(88)90683-3.
Glycine decarboxylase, a constituent of the glycine cleavage system, in patients with either nonketotic or ketotic hyperglycinemia (NKH and KH) was examined using an anti-chicken glycine decarboxylase antibody. Patients with NKH who have lesion in glycine decarboxylase are differentiated by its expressed level in the liver. One group is cases of the neonatal onset type who have neither activity of the enzyme nor protein reactive to the antibody. The other is a case of the late onset type who shows low but detectable activity of the enzyme and the desirable amount of the immunoreactive material. In the liver of a patient with KH not showing the appreciable activity of H-protein, ubiquitous amount of protein reactive to anti-H-protein IgG is detected and amount of glycine decarboxylase has also been lowered. It is suggested that several mechanisms may be involved in determining the expressed level of glycine decarboxylase in patients with hyperglycinemias.
使用抗鸡甘氨酸脱羧酶抗体对非酮症或酮症高甘氨酸血症（NKH和KH）患者体内作为甘氨酸裂解系统成分之一的甘氨酸脱羧酶进行了检测。患有甘氨酸脱羧酶病变的NKH患者可通过其在肝脏中的表达水平进行区分。一组是新生儿发病型病例，这些病例既没有该酶的活性，也没有与抗体发生反应的蛋白质。另一组是迟发性病例，其酶活性较低但可检测到，且存在适量的免疫反应性物质。在未显示H蛋白明显活性的KH患者肝脏中，检测到普遍存在的与抗H蛋白IgG发生反应的蛋白质，且甘氨酸脱羧酶的量也有所降低。这表明，高甘氨酸血症患者体内甘氨酸脱羧酶表达水平的确定可能涉及多种机制。
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