Ozalp I, Hasanoğlu A, Tunçbilek E, Yalaz K
Acta Paediatr Scand. 1981 Nov;70(6):951-3. doi: 10.1111/j.1651-2227.1981.tb06259.x.
A three-year-old asymptomatic boy with hyperlysinemia is presented. The patient's plasma lysine levels have been constantly high (685-1370 mumol/l) and excessive urinary excretion of ornithine, arginine and cystine have been noted. There was no detectable activity of lysine-ketoglutarate reductase nor saccharopine dehydrogenase in skin fibroblast culture. Review of the reported cases and this patient with serious biochemical defect but without symptoms indicate clinical heterogeneity in hereditary hyperlysinemia.
本文报告了一名患有高赖氨酸血症的三岁无症状男孩。该患者血浆赖氨酸水平持续偏高（685 - 1370 μmol/l），且尿中鸟氨酸、精氨酸和胱氨酸排泄过多。皮肤成纤维细胞培养中未检测到赖氨酸 - 酮戊二酸还原酶和酵母氨酸脱氢酶的活性。回顾已报道的病例以及该有严重生化缺陷但无症状的患者，提示遗传性高赖氨酸血症存在临床异质性。
