Mellman W J, Rawnsley B E, Nichols C W, Needelman B, Mennuti M T, Malone J, Tedesco T A
Am J Hum Genet. 1975 Nov;27(6):748-54.
The galactose tolerance of individuals with mutant genotypes affecting the activities of galactokinase (GALK) and galactose-1-phosphate uridylyltransferase (GALT) was examined. Genotypes studied were heterozygotes for the GALK and GALT forms of galactosemia, the Duarte-variant GALT, and Philadelphia-variant GALK alleles. The measurements used were urinary concentration of galactose during pregnancy in adults and in infants from the newborn period through the first 5 months of life; the rate of elimination of an intravenous infusion of galactose; and slit-lamp examination of the lens for evidence of cataracts. No unusual urinary excretions of galactose were noted in any of the age groups studied. Intravenous galactose tolerance tests were normal in all but two women, a mother and daughter heterozygous for the GALK-deficient form of galactosemia (GALKG/GALKA). Six other GALKG/GALKA subjects had normal tolerance studies. The intrafamilial consistency and interfamilial differences in the galactose tolerance of GALKG/GALKA individuals suggest heterogeneity of the genes responsible for the GALK-deficient form of galactosemia. Although subclinical cataracts were observed in several individuals, their significance relative to the mutant genotype cannot be resolved with the available data.
对具有影响半乳糖激酶（GALK）和1-磷酸半乳糖尿苷转移酶（GALT）活性的突变基因型个体的半乳糖耐受性进行了检测。所研究的基因型包括半乳糖血症的GALK和GALT形式的杂合子、杜阿尔特变异型GALT以及费城变异型GALK等位基因。所采用的测量方法包括：测定成年人孕期以及新生儿至出生后5个月婴儿尿液中的半乳糖浓度；静脉输注半乳糖后的清除率；以及裂隙灯检查晶状体以寻找白内障迹象。在所研究的任何年龄组中均未发现半乳糖的异常尿排泄情况。除了一名母亲和其女儿这两名GALK缺陷型半乳糖血症（GALKG/GALKA）杂合子女性外，所有静脉半乳糖耐受性测试均正常。其他6名GALKG/GALKA受试者的耐受性研究结果正常。GALKG/GALKA个体半乳糖耐受性的家族内一致性和家族间差异表明，导致GALK缺陷型半乳糖血症的基因存在异质性。尽管在数名个体中观察到了亚临床白内障，但根据现有数据尚无法确定其与突变基因型的相关性。
