β‐Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency
β‐Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency
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β-半乳糖苷酶治疗可缓解半乳糖变旋酶缺乏症口服乳糖负荷后血液半乳糖升高的情况
DOI：
10.1002/jimd.12444
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发表时间：
2021
影响因子：
4.2
通讯作者：
Kure Shigeo
中科院分区：
文献类型：
--
作者：
Wada Yoichi;Arai‐Ichinoi Natsuko;Kikuchi Atsuo;Kure Shigeo
半乳糖mutarotase （GALM）缺乏症（mim# 618881），也被称为IV型半乳糖血症，是由GALM的双等位基因致病性变异引起的。白内障见于GALM缺乏症患者以及与血液中半乳糖含量高相关的其他病症患者，可通过食用限制半乳糖的饮食或配方奶粉来预防。限制半乳糖是唯一已知的治疗GALM缺乏症和其他类型的半乳糖血症的方法。我们偶然发现β -半乳糖苷酶可能降低GALM缺乏症中乳糖负荷引起的血液半乳糖水平。因此，我们研究了β -半乳糖苷酶降低3例GALM缺乏症患者血中半乳糖水平的有效性。我们对每个病例进行了两次乳糖负荷试验：一次有和一次没有β -半乳糖苷酶。加用β -半乳糖苷酶可显著降低乳糖负荷后血中半乳糖的升高。尽管所有GALM缺乏症患者的尿半乳糖醇轻度升高，但β -半乳糖苷酶并不能阻止负荷试验期间尿半乳糖醇水平升高。在试验期间或试验后未观察到包括白内障在内的不良事件。因此，β -半乳糖苷酶可能是一种潜在的治疗GALM缺乏症患者因乳糖引起的血中半乳糖升高的新药物。β -半乳糖苷酶的有效性可能导致半乳糖饮食限制的放松或对GALM缺乏症患者的治疗。
Galactose mutarotase (GALM) deficiency (MIM# 618881), also known as type IV galactosemia, is caused by biallelic pathogenic variants ofGALM. Cataracts are observed in patients with GALM deficiency as well as in other conditions associated with high levels of blood galactose and can be prevented by consuming a galactose‐restricted diet or formula. Galactose restriction is the only known treatment for GALM deficiency and other types of galactosemia. We incidentally found that β‐galactosidase might reduce blood galactose levels caused by lactose loading in GALM deficiency. Consequently, we investigated the effectiveness of β‐galactosidase in decreasing the level of blood galactose in three patients with GALM deficiency. We performed two lactose loading tests per case: one with and one without β‐galactosidase. The add‐on administration of β‐galactosidase significantly mitigated blood galactose elevations after lactose loading. Although urine galactitol was mildly elevated in all patients with GALM deficiency, β‐galactosidase did not prevent increased levels of urine galactitol during the loading tests. No adverse events, including cataracts, were observed during or after the tests. Therefore, β‐galactosidase could be a potential novel treatment agent for blood galactose elevation caused by lactose in patients with GALM deficiency. The effectiveness of β‐galactosidase could possibly result in loosening of the galactose dietary restrictions or treatment for patients with GALM deficiency.
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影响因子：
8.8
作者：
Pasquali, Marzia;Yu, Chunli;Coffee, Bradford
通讯作者：
Coffee, Bradford
IV型半乳糖血症
影响因子：
8.8
作者：
D. Timson
通讯作者：
D. Timson
影响因子：
1.6
作者：
R. Okamoto;M. Mino;M. Hayashi
通讯作者：
M. Hayashi
影响因子：
5
作者：
JANSEN, G;MUSKIET, FAJ;VANDERSLIK, W
通讯作者：
VANDERSLIK, W
乳糖喂养后婴儿的血糖。
影响因子：
168.9
作者：
J. Haworth;J. D. Ford
通讯作者：
J. D. Ford