Goodman S I, Frerman F E, Loehr J P
Department of Pediatrics, University of Colorado School of Medicine, Denver.
Enzyme. 1987;38(1-4):76-9. doi: 10.1159/000469193.
Glutaric acidemia, which is due to inherited deficiency of glutaryl-CoA dehydrogenase, is characterized clinically by progressive dystonia and dyskinesia in childhood, and pathologically by degeneration of the caudate and putamen. Results using newer imaging techniques (computer tomography and magnetic resonance image scanning) suggest that neurological involvement in this condition begins before birth, and that gliosis of the basal ganglia is a relatively late event. Glutaric acidemia type II is usually due to inherited deficiency of electron transfer flavoprotein (ETF) or ETF:ubiquinone oxidoreductase, but some patients with typical disease may have another, to date undefined, abnormality. There may also be a clinical phenotype of glutaric acidemia type II which, like glutaryl-CoA dehydrogenase deficiency, is characterized by a movement disorder and by degeneration of the basal ganglia.
戊二酸血症是由于戊二酰辅酶A脱氢酶遗传性缺乏所致，临床特征为儿童期进行性肌张力障碍和运动障碍，病理特征为尾状核和壳核变性。采用更新的成像技术（计算机断层扫描和磁共振成像扫描）得到的结果表明，这种疾病的神经受累在出生前就已开始，并且基底神经节的胶质增生是相对较晚出现的情况。II型戊二酸血症通常是由于电子传递黄素蛋白（ETF）或ETF：泛醌氧化还原酶遗传性缺乏所致，但一些典型病例的患者可能存在另一种迄今尚未明确的异常情况。II型戊二酸血症也可能存在一种临床表型，与戊二酰辅酶A脱氢酶缺乏一样以运动障碍和基底神经节变性为特征。
