Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia.
Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia.
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DOI：
10.1016/s0026-0495(99)90271-8
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发表时间：
1999-10
期刊：
影响因子：
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通讯作者：
Michael J. Palmieri;Alice T. Mazur;Gerard T. Berry;C. Ning;Suzanne Wehrli;C. Yager;Robert Reynolds;Rani H. Singh;Kasinathan Muralidharan;Sharon D. Langley;L. J. Elsas;Stanton Segal
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文献类型：
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作者：
Michael J. Palmieri;Alice T. Mazur;Gerard T. Berry;C. Ning;Suzanne Wehrli;C. Yager;Robert Reynolds;Rani H. Singh;Kasinathan Muralidharan;Sharon D. Langley;L. J. Elsas;Stanton Segal
本文测定了95例正常人(N-N)、67例半乳糖血症(G-G)和39例Duarte和半乳糖血症复合杂合子(D-G)的尿半乳糖醇排泄量。在正常人和典型的限制乳糖饮食的半乳糖血症患者中，半乳糖醇的排泄都是年龄相关的。在Q188R突变纯合子的半乳糖血症患者中，尿半乳糖醇水平是同龄正常受试者的5到10倍。除少数具有Q188R突变和另一个突变G等位基因的典型半乳糖血症患者外，所有患者的尿液排泄量与Q188R纯合子患者相似。具有半乳糖-1-磷酸尿苷转移酶(GALT)基因S135L突变的非裔美国人也会排泄异常数量的半乳糖醇。大多数带有Duarte等位基因和G等位基因的受试者排出的糖醇含量正常。半乳糖醇排泄量与红细胞(RBC)、1-磷酸半乳糖(GAL-1-P)呈正相关。半乳糖血症患者血浆半乳糖醇水平也升高(3.4mmol.mo1/L，在正常人中检测不到)。与尿半乳糖醇随年龄增长而下降相反，血浆浓度保持在一个较窄的浓度范围内，且与年龄无显著差异。尿液和血浆半乳糖醇可区分半乳糖血症患者和正常人。此外，尿半乳糖排泄量可能是评估半乳糖血症稳态半乳糖代谢的重要参数。
Urinary excretion of galactitol was determined in 95 normals (N N ), 67 galactosemic (G G ), and 39 compound heterozygotes for the Duarte and galactosemia genotype (D G ). Galactitol excretion is age-dependent in both normal individuals and patients with classic galactosemia on lactose-restricted diets. In galactosemic patients who are homozygous for the Q188R mutation, urinary galactitol levels were fivefold to 10-fold higher than those of normal subjects of comparable age. All but a few patients with classic galactosemia with the Q188R mutation and another mutant G allele had urinary excretion comparable to the Q188R homozygous patients. African-American galactosemic patients with the S135L mutation of the galactose-1-phosphate uridyltransferase (GALT) gene also excreted abnormal quantities of galactitol. Most subjects with a Duarte allele and a G allele excrete normal amounts of the sugar alcohol. There is a correlation between galactitol excretion and red blood cell (RBC) galactose-1-phosphate (gal-1-P). Plasma galactitol was also elevated in galactosemic patients (3.4 to 23.2 μmol/L; undetectable in normal individuals). In contrast to the decrease in urinary galactitol with age, plasma levels remain in a narrow concentration range with no significant difference with age. Urine and plasma galactitol distinguish galactosemic patients from normals. In addition, urinary galactitol excretion may be an important parameter for the assessment of steady-state galactose metabolism in galactosemia.