Aug 01, 2025A. 先天性代謝異常 Inborn errors of metabolism 【罕病分類】│【回目錄】 A1尿素循環代謝異常 Urea cycle disorders A2胺基酸/有機酸代謝異常 Disorders of amino acid/organic acid metabolism A3溶小體儲積症 Lysosomal storage disorders A4碳水化合物代謝異常 Disorders of carbohydrate metabolism A5脂肪酸氧化異常 Disorders of fatty acid oxidation A6粒線體異常 Mitochondrial disorders A7維生素代謝異常 Disorders of vitamin metabolism A8膽固醇及脂質代謝異常 Disorders of cholesterol and lipid metabolism A9金屬代謝異常 Disorders of metal metabolism A10過氧化體異常 Peroxisomal disorders A11其他代謝異常 Other metabolic disorders
