遺傳性代謝疾病之治療

Treatment for Inherited Metabolic Disorders

10.6320/FJM.202207_26(4).0007

李妮鍾(Ni-Chung Lee)；簡穎秀(Yin-Hsiu Chien)；胡務亮(Wuh-Liang Hwu)

遺傳性疾病 ； 遺傳性代謝疾病 ； 基因治療 ； inherited disease ； inborn error of metabolism ； gene therapy

台灣醫學

26卷4期（2022 / 07 / 25）

435 - 439

繁體中文

遺傳性代謝疾病的種類繁多，但病人數相對偏少，以致於藥物開發的速度緩慢。傳統的代謝疾病治療以飲食控制、移除有毒物質堆積、補充缺乏酵素或蛋白質以及小分子治療為主。近年來，基因治療的開發，讓這群疾病的治療跨入新的世紀。目前遺傳性代謝疾病上市的治療主要以慢病毒載體（lentivrius）以及反義寡核苷酸（antisense oligonucleotide）以及RNA干擾治療（RNAi）為主。而腺相關病毒（adeno-associated virus）載體的治療及非病毒載體的mRNA治療，也都在進行臨床試驗。相信在不久的將來，會有越來越多的疾病，可以獲得治療。

Although there are varieties of diseases belonging to inborn error of metabolism (IEM), patient number is relatively small compared to other common disease. Because of the smaller patient number, the development of treatment for IEM is relatively slow. The traditional treatment for IEM patients includes diet control, toxin removal, supplementation, or small molecule therapy. Recently, the management of IEM entered a new era because of the development of gene therapy. Currently, treatment of IEM using lentivirus, antisense oligonucleotide, and RNAi had been approved. Also, products for adeno-associated virus and mRNA therapy using lipid nanoparticle are emerging clinical trials. We believe there will be more and more treatment available soon.