新生儿先天代谢异常筛检.DOC

新生兒先天代謝異常篩檢 罕見先天代謝異常疾病種類 胺基酸類 中文名稱 辨識標記 *1 Phenylketonuria 苯酮尿症 PHE，TYR，PHE/TYR *2 Homocystinuria 高胱胺酸尿症 MET *3 Maple Syrup Urine Disease 楓糖尿症 LEU/ILE，VAL 4 Tyrosinemia 酪胺酸血症 TYR 5 Citrullinemia 瓜胺酸血症 CIT 6 Argininemia 精胺酸血症 ARG 7 Hyperammonemia，Hyperornithinemia Homocitrullinuria Syndrome 高氨血症 ORN ? 脂肪酸類 ? ? 8 Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) 極長鏈脂肪酸代謝異常 C14，C14.1，C16 9 Long Chain hydroxyl Acyl-CoA Dehydrogenase Deficiency (LCHAD) 長鏈脂肪酸代謝異常 C16OH，C18OH，C18.1OH *10 Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) 中鏈脂肪酸代謝異常 C6，C8，C10，C8/C10 11 Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) 短鏈脂肪酸代謝異常 C4，C6 12 Carnitine/acylcarnitine Tanslocase Deficiency 卡尼丁穿透障礙 C16，C18，C18.1 13 Carnitine Palmitoyl Transferase Deficiency Type I (CPT-I) 卡尼丁結合酵素缺乏症第一型 C0 (free carnitine higher)C16，C18，C18.1 (lower) 14 Carnitine Palmitoyl Transferase Deficiency Type II (CPT-II) 卡尼丁結合酵素缺乏症第二型 C14，C16，C18，C18.1 15 Carnitine Transporter Defect 卡尼丁吸收障礙 C0，C2 (lower) *16 Multiple Acyl-CoA Dehydrogenase Deficiency (GA-I) 戊二酸血症第一型 C5DC 17 Multiple Acyl-CoA Dehydrogenase Deficiency (GA-II) 戊二酸血症第二型 C4，C5，C8，C8.1，C12，C14，C16 ? 有機酸類 ? ? *18 Methylmalonic Acidemia (MMA) 甲基丙二酸血症 C3，C4DC，C3/C2 19 Propionic Acidemia (PA) 丙酸血症 C3，C3/C2 *20 Isovaleric Acidemia (IVA) 異戊酸血症 C5 21 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) 3-甲基巴豆醯輔酶Α羧化酶缺乏症 C5OH 22 3-Hydroxy-3-Methylglutaric Aciduria (HMG) 3-羥基-3-甲基戊二酸尿症 C5OH 23 Trifunctional protein deficiency 三功能蛋白缺乏症 C16OH，C18OH，C18.1OH 24 Ethylmalonic Acidemia 乙基丙二酸血症 C4，C5 25 Malonic Acidemia 丙二酸血症 C3DC 26 Isobutyryl CoA dehydrogenase deficiency Isobutyryl CoA 去氫酶缺乏症 C14.1 ? 非串聯質譜儀篩檢項目 ? ? *27 Congenital Hypothyroidism (CHT) 先天性甲狀腺功能低下症 TSH *28 Congenital Adrenal Hyper (CAH) 先天性腎上腺增生症 17-OHP *29 Gucose-6-Phosphate Dehydrogenase Deficiency (G6PD) 葡萄糖6磷酸鹽去氫酶缺乏症 G6PD *30 Galactose