Current status and progress of mucopolysaccharidosis type Ⅰ

VernacularTitle:黏多糖贮积症Ⅰ型的研究现状及进展
Author: Yangli DAI ; Mingqiang ZHU ; Zhaochun ZOU
From: Chinese Journal of Endocrinology and Metabolism 2021;37(4):306-310
CountryChina
Language:Chinese
Abstract: Mucopolysaccharidosis type I(MPS Ⅰ), a rare autosomal recessive metabolic disease with complex clinical manifestations, often involves multiple organs and results in a heavy disease burden, for which low diagnosis rate and delayed diagnosis are common. Enzyme replacement therapy and hematopoietic stem cell transplantation are the main treatments for MPS Ⅰ, and MPS Ⅰ patients can benefit from the two therapies as shown by a large amount of research data. There is a lack of awareness of MPS Ⅰ and little research has been done on that at present in China. This article will review the epidemiological characteristics, gene mutations and clinical phenotypes, clinical manifestations, diagnosis and treatment of MPS Ⅰ for understanding the diseases comprehensively as well as promoting early diagnosis and treatment, and earlier treatment may be beneficial to patients.