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Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-08-11 , DOI: 10.1002/mgg3.1371
Rita Fischetto 1 , Valentina Palladino 2 , Maria M Mancardi 3 , Thea Giacomini 3 , Stefano Palladino 4 , Alberto Gaeta 4 , Maja Di Rocco 5 , Lucia Zampini 6 , Giuseppe Lassandro 2 , Vito Favia 1 , Maria E Tripaldi 2 , Pietro Strisciuglio 7 , Alfonso Romano 7 , Mariasavina Severino 8 , Amelia Morrone 9 , Paola Giordano 2
Affiliation  

In GM1 gangliosidosis the lack of function of β‐galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disability and premature death. In the type 2 form of the disease, early intervention would be important to avoid precocious complications. To date, there are no effective therapeutic options in preventing progressive neurological deterioration. Substrate reduction therapy with Miglustat, a N‐alkylated sugar that inhibits the enzyme glucosylceramide synthase, has been proposed for the treatment of several lysosomal storage disorders such as Gaucher type 1 and Niemann Pick Type C diseases. However, data on Miglustat therapy in patients with GM1 gangliosidosis are still scarce.

中文翻译:

Miglustat的底物减少疗法可治疗2型GM1神经节病患儿延迟神经系统受累:多中心经验。

在GM1神经节病中,β-半乳糖苷酶功能的缺乏导致内脏器官,特别是中枢神经系统中GM1神经节苷脂和相关糖缀合物的积累,导致严重的残疾和过早死亡。在该疾病的2型中,早期干预对于避免过早并发症很重要。迄今为止,尚无有效的治疗选择来预防进行性神经系统恶化。已提出使用Miglustat(一种抑制糖苷神经酰胺合酶的N烷基化糖)进行底物还原疗法,用于治疗几种溶酶体贮积病,例如1型高歇(Gaucher)型和C型Niemann Pick疾病。但是,关于GM1神经节苷脂病患者的Miglustat治疗的数据仍然很少。
更新日期:2020-10-12
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