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【基礎醫學病理學黏多醣症(Mucopolysaccharidosis；MPS) 】
　　黏多醣是一種長鏈的醣類大分子，因為是多醣類且又具有黏稠膠狀的特質，因而得名。它是構成我們身體的結締組織，如：皮膚、骨骼、韌帶、血管壁、角膜、臟器的支撐結構等的主要成份

而黏多醣症(Mucopolysaccharidosis；MPS) 是種遺傳性先天代謝疾病，全名是「黏多醣貯積症」，屬於單基因遺傳疾病，且均以隱性遺傳方式，除了第二型為X染色體隱性遺傳之外，其他型皆為體染色體隱性遺傳方式且無症狀，但帶病因的母親或父親，將隱而不顯的基因缺陷遺傳給子女，使得子女體內細胞無法產生分解黏多醣所需的酶，導致黏多醣漸漸堆積在細胞、結締組織及許多的器官中，進而傷害了器官的結構與功能，黏多醣症因缺少的分解酵素種類不同，而可細分為六型，其嚴重程度也不盡相同。

　　由於黏多醣堆積是漸進式的過程，因此罹病的小孩在出生時並無異樣，但隨著年齡的增長，逐漸在體內積過量的黏多醣會影響其智能、外貌及骨骼發展，如：逐漸出現身材矮小長不高、智力受損、頭顱變大、濃眉、臉部多毛、鼻樑塌陷、嘴唇厚實、反覆性中耳炎、慢性流鼻水、上呼吸道障礙、關節變形僵硬、手臂粗短彎曲、爪狀手、短下肢、膝內翻、脊柱變粗、肝脾腫大、發育遲緩、腹部突出、肚疝氣、腹股溝疝氣、角膜混濁、背部與手臂上丘疹、多毛症、漸進性聽力喪失、牙齒發育異常、阻塞性呼吸道疾病、經常性肺炎、心肌性/瓣膜性心臟病、中樞神經系統受損、多發性成骨不全及腕隧道症候群等

在現階段對於MPS的各種臨床症狀，均予協助以減輕病情、減少痛苦，目前己有的酵素替代治療，是以注射的方式將合成的特殊酵素，每週定期給予患者，可達到不錯療效。但卻無法治癒，患者視其病情的嚴重程度，壽命長短差距很大，輕微型病人的壽命和正常人差不多，醫學文獻曾報告過一個活到87 歲的MPS II 病例，但嚴重型者很少活過 15 歲，有些甚至更早即死亡，死因多半是感染症、肺炎或心臟衰竭。

　　
　　

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