Pesce M A, Bodourian S H
Clin Chem. 1982 Feb;28(2):301-5.
We correlated the clinical symptoms of transferase-deficient galactosemia with the plasma galactose and erythrocyte galactose-1-phosphate concentrations in six galactosemic patients during dietary treatment, in a child before treatment, and in 12 individuals with below-normal erythrocyte hexose-1-phosphate uridylyltransferase activity. All the treated patients were asymptomatic. Normal galactose and either normal or above-normal galactose-1-phosphate concentrations were found. Three of these patients were clinically normal as newborns while ingesting galactose-containing foods and may resemble the asymptomatic Negro galactosemic. The clinical symptoms of galactosemia were observed in the untreated patient, who showed markedly above-normal concentrations of galactose and galactose-1-phosphate, protein and reducing substances in the urine, above-normal bilirubin and alkaline phosphatase in the plasma, with normal values for glucose, aspartate aminotransferase, alanine aminotransferase, and gamma-glutamyltransferase. Clinical improvement in this patient paralleled the decline in erythrocyte galactose-1-phosphate. The individuals with below-normal hexose-1-phosphate uridylyltransferase activity (range 7--17 U/g of hemoglobin) had normal galactose and galactose-1-phosphate concentrations and were asymptomatic.
我们将6名半乳糖血症患者在饮食治疗期间、1名治疗前儿童以及12名红细胞己糖-1-磷酸尿苷转移酶活性低于正常水平的个体的转酶缺乏型半乳糖血症临床症状，与血浆半乳糖和红细胞半乳糖-1-磷酸浓度进行了关联分析。所有接受治疗的患者均无症状。发现其半乳糖浓度正常，半乳糖-1-磷酸浓度正常或高于正常。其中3名患者在新生儿期摄入含半乳糖食物时临床症状正常，可能类似于无症状的黑人半乳糖血症患者。在未治疗的患者中观察到了半乳糖血症的临床症状，该患者的半乳糖、半乳糖-1-磷酸、尿蛋白和还原物质浓度明显高于正常，血浆胆红素和碱性磷酸酶高于正常，而葡萄糖、天冬氨酸转氨酶、丙氨酸转氨酶和γ-谷氨酰转移酶值正常。该患者的临床改善与红细胞半乳糖-1-磷酸的下降同步。己糖-1-磷酸尿苷转移酶活性低于正常水平（范围为7 - 17 U/g血红蛋白）的个体，其半乳糖和半乳糖-1-磷酸浓度正常且无症状。
