Pediatric geneticist Dr. Lin Hsuen-pei of Taipei's Mackay Memorial Hospital observes: "Congenital metabolic disorders are diseases caused by specific genetic defects, and they occur at a rate of three to four per 10,000. Calculating on this basis, there must be around 6,000 people in Taiwan with metabolic disorders."
遺傳疾病當中有不少屬於代謝異常的疾病，馬偕紀念醫院小兒遺傳科醫師林炫沛指出：「先天代謝異常是特殊遺傳基因缺陷而導致的疾病，發生率約為萬分之三到四，以此推算台灣應有約六千名的代謝異常患者。」