Plöchl E, Jarosch E
Monatsschr Kinderheilkd (1902). 1977 Oct;125(10):892-4.
Congenital hyperdibasicaminoaciduria without cystinuria was detected in a mentally but not physically retarded boy. Plasma lysine and arginine were normal, whereas plasma ornithine was decreased. Although oral or intravenous loading tests could not be performed, the history without vomiting or diarrhea, and the normal physical development indicated an unimpaired intestinal transport of basic aminoacids. Our case could be a further mutant of this transport defect which concerns the renal tubuli only.
在一名智力发育迟缓但身体发育正常的男孩中检测到了无胱氨酸尿症的先天性高双碱性氨基酸尿症。血浆赖氨酸和精氨酸正常，而血浆鸟氨酸减少。尽管无法进行口服或静脉负荷试验，但无呕吐或腹泻的病史以及正常的身体发育表明碱性氨基酸的肠道转运未受损。我们的病例可能是这种仅涉及肾小管的转运缺陷的另一种突变类型。
