Oberiter V, Puretić Z, Fabecić-Sabadi V
Eur J Pediatr. 1978 Apr 20;127(4):279-85. doi: 10.1007/BF00493544.
The case of a seven and a half-year-old girl with hyperglycinuria, oxalate nephrolithiasis, and a normal plasma amino acid pattern is presented. Hyperglycinuria amounted to 400 mg of glycine in 24 h urine and the stone was composed of calcium oxalate dihydrate. The metabolic relationship between glycine and oxalate is discussed. It is possible that the association of nephrolithiasis and hyperglycinuria was coincidental, although the case of familial hyperglycinuria with nephrolithiasis reported by De Vries and collaborators and our case suggest the possibility of a relationship between the aforesaid compounds in vivo.
本文报告了一例7岁半女童,患有高甘氨酸尿症、草酸钙肾结石,血浆氨基酸谱正常。24小时尿中高甘氨酸尿症的甘氨酸含量达400毫克,结石由二水合草酸钙组成。文中讨论了甘氨酸与草酸盐之间的代谢关系。肾结石与高甘氨酸尿症之间的关联可能是巧合,尽管德弗里斯及其合作者报告的家族性高甘氨酸尿症合并肾结石病例以及我们的病例表明,上述化合物在体内可能存在关联。