丙酸血症和3-甲基巴豆酰甘氨酸尿症患者合并亚氨基甘氨酸尿症、胱氨酸尿症和二碱基氨基酸尿症
Combined iminoglycinuria and cystine- and dibasic aminoaciduria in patients with propionic acidaemia and 3-methylcrotonylglycinuria.
作者信息
Purkiss P, Chalmers R A, Borud O
出版信息
J Inherit Metab Dis. 1980;3(3):85-6. doi: 10.1007/BF02312533.
PMID:6775144
Abstract
Urinary amino acids have been determined in six patients with propionic acidaemia, one of whom also showed 3-methylcrotonylglycinuria. Two patients, including the subject with 3-methylcrotonylglycinuria, showed a gross aminoaciduria with features of both cystinuria and iminoglycinuria. We suggest a defect in certain amino acid transport systems in some patients with these disorders.
摘要
已对6名丙酸血症患者的尿氨基酸进行了测定，其中1名患者还表现出3-甲基巴豆酰甘氨酸尿症。包括患有3-甲基巴豆酰甘氨酸尿症的患者在内的2名患者表现出严重的氨基酸尿症，同时具有胱氨酸尿症和亚氨基甘氨酸尿症的特征。我们认为，这些疾病的某些患者存在特定氨基酸转运系统缺陷。
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