Newly Identified Forms of Electron Transfer Flavoprotein Deficiency in Two Patients with Glutaric Aciduria Type II
Newly Identified Forms of Electron Transfer Flavoprotein Deficiency in Two Patients with Glutaric Aciduria Type II
复制标题
两名 II 型戊二酸尿症患者新发现的电子转移黄素蛋白缺乏形式
作者：
S. Yamaguchi;T. Orii;Yasuyuki Suzuki;K. Maeda;M. Oshima;T. Hashimoto
摘要：本文报道了两例II型谷氨酸尿症（GA II）患者新发现的电子转移黄素蛋白（ETF）缺乏症。GA II是由于ETF或ETF脱氢酶的缺陷，导致多个酰基辅酶A脱氢缺陷。ETF是一种线粒体黄素蛋白，由α-亚基、β-ETF和α α-亚基组成。我们使用脉冲追踪实验，以研究生物合成的ETF在成纤维细胞从两个GA II患者。患者I是一个男孩，具有新生儿发病形式，但没有先天性异常，年龄2岁。在该患者中观察到β-ETF生物合成缺陷。患者2是一名患有先天性异常的新生儿发病形式的男孩，他在出生后第3天死亡。他有一张奇特的脸和多囊肾。在患者2中，α-和β-ETF都被合成，但两种亚基都被迅速降解。ETF的不稳定性被认为是该患者GA II的原因。这两种情况似乎是GA II中ETF不足的新形式。
ABSTRACT: Newly identified forms of electron transfer flavoprotein (ETF) deficiency in two patients with glutaric aciduria type II (GA II) were described. GA II has been attributed to a defect of either ETF or ETF dehydrogenase, resulting in multiple acyl-CoA dehydrogenation deficiency. ETF is a mitochondrial flavoprotein consisting of an α-subunit, β-ETF, a α α-subunit, β-ETF. We used pulse-chase experiments to examine the biosynthesis of ETF in fibroblasts from two patients with GA II. Patient I was a boy with the neonatal onset form, but without congenital anomalies, who is living at age 2 y. A defect of β-ETF biosynthesis was noted in this patient. Patient 2 was a boy with the neonatal onset form with congenital anomalies who died on the 3rd postnatal day. He presented with a peculiar face and polycystic kidneys. In patient 2, both α-and β-ETF were synthesized, but both the subunits were rapidly degraded. The lability of ETF was considered to be the cause of GA II in this patient. These two cases appear to be new forms of ETF deficiency in GA II.
DOI：
10.1016/s0021-9258(19)37655-0
发表时间：
1988-10
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Gaetano FinocchiaroS;Michinori Itog;Yasuyuki Ikedali;Kay Tanaka
通讯作者：
Gaetano FinocchiaroS;Michinori Itog;Yasuyuki Ikedali;Kay Tanaka
DOI：
10.1073/pnas.82.13.4517
发表时间：
1985-01-01
影响因子：
11.1
作者：
FRERMAN, FE;GOODMAN, SI
通讯作者：
GOODMAN, SI
培养的异戊酸血症成纤维细胞变异异戊酰辅酶A脱氢酶的分子异质性。
DOI：
10.1073/pnas.82.20.7081
发表时间：
1985
影响因子：
11.1
作者：
Ikeda,Y;Keese,SM;Tanaka,K
通讯作者：
Tanaka,K