Roesel R A, Blankenship P R, Lynch W R, Coryell M E, Thevaos T G, Hall W K
Hum Hered. 1979;29(6):364-70. doi: 10.1159/000153074.
Hydroxyproline metabolism was evaluated in two sisters with hydroxyprolinemia and their mother. 33 and 21% of an oral hydroxyproline load (200 mg/kg) was excreted by the sisters, 5.4% by the mother, and 1.3% by normal subjects. Plasma and erythrocyte values in the sisters and their mother were elevated, indicating that extra- and intracellular hydroxyproline pools were increased. Analysis for urinary glycolate and oxalate (metabolic products of hydroxyproline) showed no increased excretion by the two sisters, although the mother's excretion was normal. A deficiency of hydroxyproline oxidase in the two sisters was indicated by the lack of delta 1-pyrroline-3-hydroxy-5-carboxylic acid excretion.
对两名患有羟脯氨酸血症的姐妹及其母亲的羟脯氨酸代谢进行了评估。口服羟脯氨酸负荷量（200mg/kg）后，姐妹俩分别排泄了33%和21%，母亲排泄了5.4%，正常受试者排泄了1.3%。姐妹俩及其母亲的血浆和红细胞值升高，表明细胞外和细胞内的羟脯氨酸池增加。对尿中乙醇酸和草酸盐（羟脯氨酸的代谢产物）的分析显示，两名姐妹的排泄量没有增加，尽管母亲的排泄量正常。两名姐妹缺乏δ1-吡咯啉-3-羟基-5-羧酸排泄，表明存在羟脯氨酸氧化酶缺乏。
