Advances in treatment of mucopolysaccharidosis type ⅣA
10.3760/cma.j.issn.1673-4408.2025.07.004
- VernacularTitle:黏多糖贮积症ⅣA型治疗研究进展
- Author:
Yiqi QIN
1
;
Wen ZHANG
Author Information
1. 广州医科大学附属妇女儿童医疗中心遗传与内分泌科 510623
- Keywords:
Mucopolysaccharidosis type ⅣA;
Skeletal dysplasia;
Treatment
- From:
International Journal of Pediatrics
2025;52(7):446-450
- CountryChina
- Language:Chinese
-
Abstract:
Mucopolysaccharidosis type ⅣA（MPS ⅣA）is an autosomal recessive lysosomal storage disorder caused by deficiency of the N-acetylgalactosamine-6-sulfatase（GALNS）enzyme. This enzymatic defect leads to pathological accumulation of keratan sulfate（KS）and chondroitin-6-sulfate（C6S）within lysosomes，resulting in multisystem organ dysfunction characterized predominantly by progressive skeletal dysplasia. The clinical manifestations of MPS ⅣA demonstrate remarkable heterogeneity，ranging from mild forms to life-threatening severe phenotypes. The current mainstay therapeutic approaches consist of enzyme replacement therapy（ERT）and hematopoietic stem cell transplantation（HSCT）. However，these treatment modalities demonstrate limited efficacy in ameliorating skeletal abnormalities. Recent preclinical studies have shown promising results with novel therapeutic approaches including gene therapy and substrate reduction therapy for improving skeletal lesions. This review systematically summarizes current treatment options and research advances in MPS ⅣA to provide evidence-based guidance for clinical practice and future investigations.
