Brandt N J, Brandt S, Christensen E, Gregersen N, Rasmussen K
Clin Genet. 1978 Jan;13(1):77-80. doi: 10.1111/j.1399-0004.1978.tb04131.x.
The clinical symptoms in a 10-year-old girl with progressive dystonic cerebral palsy are described. The biochemical findings were dominated by large amounts of glutaric acid in the urine. The disorder is caused by impairment of the degradation of glutaryl-CoA. A survey is given of the clinical and biochemical symptoms, based on the five cases reported so far. It is concluded that patients with progressive dystonic palsy should be examined for disorders in the metabolism of organic acids.
描述了一名患有进行性肌张力障碍型脑瘫的10岁女孩的临床症状。生化检查结果显示尿液中大量存在戊二酸。该病症是由戊二酰辅酶A降解受损引起的。基于目前已报道的5例病例，对临床和生化症状进行了综述。得出结论，对于进行性肌张力障碍性麻痹患者，应检查其有机酸代谢紊乱情况。
