Kyllerman M, Steen G
Neuropadiatrie. 1977 Nov;8(4):397-404. doi: 10.1055/s-0028-1091535.
A case of glutaric aciduria, a recently discovered inborn error of tryptophan-lysine metabolism, is reported. Development was normal during the first year of life. Signs of dyskinesia and dystonia associated with developmental regression occurred twice during gastrointestinal disease. By two years of age, a dystonic syndrome with a severe motor and language disability had resulted.
本文报告了一例戊二酸尿症病例,这是一种最近发现的色氨酸-赖氨酸代谢先天性缺陷疾病。患儿出生后第一年发育正常。在患胃肠疾病期间,出现过两次与发育倒退相关的运动障碍和张力障碍症状。到两岁时,已导致严重运动和语言残疾的张力障碍综合征。