高胱胺酸尿症(英語:Homocystinuria)是一種遺傳病,會導致體內堆積甲硫胺酸、高胱胺酸、高半胱胺酸及複合雙硫化合物,造成智能不足、骨骼畸型、心血管疾病等。
此遺傳病的發生率約為20萬分之1。
遺傳方面,其遺傳方式為體染色體隱性遺傳。
參考資料
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