Schwarz H P, Schaefer T, Bachmann C
Clin Chem. 1985 Mar;31(3):420-2.
An oral dose of galactose, 1 g/kg of body weight, was administered to 24 children with the Duarte variant/classical galactosemia genetic compound (GtD/gt) and to 16 controls ranging in age from 0.3 to 10.7 years. Urine was then collected for 3h. Excreted amounts of galactose and galactitol increased with age in all subjects, but were consistently greater in the compound heterozygotes. If related to urinary creatinine, galactosuria and galactitoluria were no longer age-dependent, although as compared with the controls, urinary galactose was about three times and urine galactitol twice as high in the patients (p less than 0.01 for both). We found a statistically significant correlation between urinary galactitol and galactose in these patients. Moreover, urinary galactitol and galactose each correlated positively with the area under the plasma galactose curve, as well as with the peak value for plasma galactose after galactose ingestion.
给24名患有杜阿尔特变异型/经典半乳糖血症基因复合（GtD/gt）的儿童以及16名年龄在0.3至10.7岁之间的对照儿童口服1 g/kg体重的半乳糖。随后收集尿液3小时。所有受试者中，半乳糖和半乳糖醇的排泄量均随年龄增加，但复合杂合子中的排泄量始终更高。若与尿肌酐相关，半乳糖尿症和半乳糖醇尿症不再依赖于年龄，不过与对照相比，患者的尿半乳糖约为对照的三倍，尿半乳糖醇为对照的两倍（两者p均小于0.01）。我们发现这些患者的尿半乳糖醇和半乳糖之间存在统计学上的显著相关性。此外，尿半乳糖醇和半乳糖各自与血浆半乳糖曲线下面积以及半乳糖摄入后血浆半乳糖峰值呈正相关。
