mucopolysaccharidosis

• 黏多糖贮积症，是一组遗传性代谢疾病，因体内黏多糖（糖胺聚糖）分解代谢障碍导致其在组织中异常蓄积。属于溶酶体贮积症的一种。

Any of a group of genetic disorders characterized by a defect in the metabolism of mucopolysaccharides, leading to abnormally high levels of these substances in tissues.

1. Genetic metabolic disorderC2formalmedical

   Any of a group of inherited diseases caused by a deficiency of enzymes needed to break down mucopolysaccharides, leading to their accumulation in tissues and causing various physical and neurological symptoms.

   遗传性代谢病

   • Mucopolysaccharidosis type I is also known as Hurler syndrome.
   • Children with mucopolysaccharidosis often require enzyme replacement therapy.
   • The diagnosis of mucopolysaccharidosis is confirmed through genetic testing.

   同义词mps