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Case Report The First Case of Homocystinuria Picked Up by Newborn Screening in Hong Kong: A Case Report 香港首例通過新生兒篩查專案檢出的高胱氨酸尿症：一病例報告 Abstract Classical homocystinuria is a rare metabolic disease among the local Chinese population. We report a case of pyridoxine non-responsive classical homocystinuria who was picked up by the Hong Kong government's territory wide newborn screening programme which was started in 2015. 經典型高胱氨酸尿症在當地中國人口中是罕見的代謝疾病。我們報導一例吡多醇無反應經典型高胱氨酸尿症，由新生兒篩查專案檢出，該專案自2015年開始在全港開展。 Keyword : Cystathionine beta-synthase deficiency; Homocystinuria; Newborn screening; Pyridoxine unresponsive 關鍵詞：胱硫醚β合酶缺乏、高胱氨酸尿症、新生兒篩查、吡多醇無反應
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