n.粘多糖贮积病

Mucopolysaccharidoses are a group of rare inherited lysosomal storage diseases.
这些是罕见的遗传性溶酶体储存疾病的一组。
The most common form is mucopolysaccharidosis type I, also known as Hurler syndrome.
最常见的类型是黏多糖病I型，也称为赫勒综合症。
Affected individuals have a buildup of mucopolysaccharides in their cells, leading to various health complications.
受影响的人体细胞内会有黏多糖的积累，导致多种健康问题。
Early diagnosis and treatment are crucial for managing the symptoms of mucopolysaccharidoses.
早期诊断和治疗对于控制黏多糖病的症状至关重要。
Symptoms may include short stature, joint stiffness, and an enlarged spleen in mucopolysaccharidosis patients.
症状可能包括矮小、关节僵硬以及黏多糖病患者脾脏肿大。
Management often involves regular enzyme replacement therapy to break down the excess mucopolysaccharides.
治疗通常包括定期使用酶替代疗法来分解过多的黏多糖。
Research continues to explore new therapies for mucopolysaccharidoses, with a focus on gene therapy and enzyme replacement.
对黏多糖病的研究仍在探索新的治疗方法，重点关注基因疗法和酶替代疗法。
These conditions can lead to progressive organ dysfunction and reduced life expectancy if left untreated.
如果不治疗，这些病症可能导致器官功能逐渐衰退和预期寿命缩短。
Early intervention and multidisciplinary care are essential for improving the quality of life for mucopolysaccharidosis patients.
早期干预和多学科护理对于提高黏多糖病患者的生活质量至关重要。
While there is no cure for mucopolysaccharidoses, advances in medical knowledge have improved outcomes for those affected.
尽管目前还没有治愈黏多糖病的方法，但医学知识的进步已经改善了受影响者的预后。