| A.先天性代謝異常 Inborn errors of metabolism |
| A1尿素循環代謝異常 Urea cycle disorders |
| 1.先天性尿素循環代謝障礙 Congenital urea cycle disorders |
| 2.瓜胺酸血症 Citrullinemia |
| 3.乙醯榖胺酸合成酶缺乏症 Nitroacetylglutamate synthetase deficiency, NAG synthetase deficiency |
| 4.鳥胺酸氨甲醯基轉移酶缺乏症 Ornithine transcarbamylase deficiency |
| 5.高鳥胺酸血症-高氨血症-高瓜胺酸血症症候群Hyperornithinemia-HyperammonemiaHomocitrullinuria syndrome |
| A2胺基酸/有機酸代謝異常 Disorders of amino acid/organic acid metabolism |
| 1.胺基酸代謝疾病 Amino acid metabolic disorders (Aminoacidopathies) |
| 2.高胱胺酸尿症 Homocystinuria |
| 3.高甲硫胺酸血症 Hypermethioninemia |
| 4.非酮性高甘胺酸血症 Nonketotic hyperglycinemia |
| 5.苯酮尿症 Phenylketonuria |
| 6.四氫基喋呤缺乏症 Tetrahydrobiopterin deficiency |
| 7.遺傳性高酪胺酸血症 Hereditary tyrosinemia |
| 8.楓糖尿症 Maple syrup urine disease |
| 9.有機酸血症 Organic acidemias |
| 10.異戊酸血症 Isovaleric acidemia |
| 11.戊二酸尿症，第一型、第二型 Glutaric aciduria type I、II |
| 12.丙酸血症 Propionic acidemia |
| 13.甲基丙二酸血症 Methylmalonic acidemia |
| 14.3-羥基-3-甲基戊二酸血症 3-Hydroxy-3-methylglutaric acidemia |
| 15.典型苯酮尿症合併蔗糖酶同麥芽糖酶缺乏症 PAH type PKU combine with sucraseisomaltase deficiency |
| 16.高離胺酸血症 Hyperlysinemia |
| 17.組胺酸血症 Histidinemia |
| 18.三甲基巴豆醯輔酶A羧化酵素缺乏症3-Methylcrotonyl-CoA carboxylase deficiency |
| 19.多發性羧化酶缺乏症 Multiple carboxylase deficiency |
| 20.高脯胺酸血症 Hyperprolinemia |
| 21.芳香族 L-胺基酸類脫羧基酶缺乏症Aromatic L-amino acid decarboxylase deficiency |
| 22.酪胺酸羥化酶缺乏症 Tyrosine hydroxylase deficiency |
| 23.甲基丙二酸血症併高胱胺酸尿症,cb1C 型 Cobalamin C defect (Methylmalonic acidemia and Homocystinuria, cb1C type) |
| 24.原發性高草酸鹽尿症 Primary hyperoxaluria |
| 25.黑尿症 Alkaptonuria |
| A3溶小體儲積症 Lysosomal storage disorders |
| 1.高雪氏症 Gaucher disease |
| 2.GM1/GM2神經節苷脂儲積症 GM1/GM2 gangliosidosis |
| 3.Fabry 氏症(法布瑞氏症) Fabry disease |
| 4.Niemann-Pick 氏症，鞘髓磷脂儲積症 Niemann-Pick disease |
| 5.MLD 症候群 Metachromatic leukodystrophy (MLD) |
| 6.球細胞腦白質失養症 Globoid cell leukodystrophy (Krabbe’s disease) |
| 7.嬰兒型溶酶體酸性脂肪酶缺乏症(又稱伍爾曼氏症)Infantile form lysosomal acid lipase deficiency (Wolman disease) |
| 8.胱胺酸血症 Cystinosis |
| 9.黏多醣症 Mucopolysaccharidoses |
| 10.岩藻糖代謝異常(儲積症) Fucosidosis |
| 11.涎酸酵素缺乏症 Sialidosis |
| 12.黏脂質症 Mucolipidosis |
| 13.神經元蠟樣脂褐質儲積症 Neuronal ceroid lipofuscinosis |
| 14.多發性硫酸脂酶缺乏症 Multiple sulfatase deficiency |
| A4碳水化合物代謝異常 Disorders of carbohydrate metabolism |
| 1.半乳糖血症 Galactosemia |
| 2.肝醣儲積症 Glycogen storage disease |
| 3.腦血管屏障葡萄糖輸送缺陷Glut (Glucose transport)1 deficiency syndrome |
| 4.轉醛醇酶缺乏症 Transaldolase deficiency |
| A5脂肪酸氧化異常 Disorders of fatty acid oxidatio |
| 1.脂肪酸氧化作用缺陷 Fatty acid oxidation defect |
| 2.原發性肉鹼缺乏症 Carnitine deficiency syndrome, primary |
| 3.中鏈脂肪酸去氫酵素缺乏症Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD) |
| 4.短鏈脂肪酸去氫酶缺乏症 Short-chain acyl-CoA dehydrogenase deficiency |
| A6粒線體異常 Mitochondrial disorders |
| 1.粒線體缺陷 Mitochondrial defect |
| 2.Kearns-Sayre 氏症候群 Kearns-Sayre syndrome |
| 3.Leigh 氏童年期腦脊髓病變 Leigh disease |
| 4.MELAS 症候群 MELAS |
| 5.MNGIE 症候群粒線體性神經胃腸腦病變症候群 Mitochondrial neurogastrointestinal encephalopathy syndrome |
| 6.丙酮酸鹽脫氫酶缺乏症 Pyruvate dehydrogenase deficiency |
| 7.巴氏症候群 Barth syndrome |
| 8.雷伯氏遺傳性視神經病變 Leber hereditary optic neuropathy |
| A7維生素代謝異常 Disorders of vitamin metabolism |
| 1.生物素酶缺乏症 Biotinidase deficiency |
| A8膽固醇及脂質代謝異常 Disorders of cholesterol and lipid metabolism |
| 1.同合子家族性高膽固醇血症Homozygous familial hypercholesterolemia |
| 2.家族性高乳糜微粒血症 Familial hyperchylomicronemia |
| 3.豆固醇血症(植物性) Sitosterolemia |
| 4.先天性全身脂質營養不良症 Congenital generalized lipodystrophy |
| 5.腦腱性黃瘤症 Cerebrotendinous xanthomatosis |
| A9金屬代謝異常 Disorders of metal metabolism |
| 1.威爾森氏症 Wilson’s disease |
| 2.Menkes 症候群 Menkes syndrome |
| 3.鉬輔酶缺乏症 Molybdenum cofactor deficiency |
| A10過氧化體異常 Peroxisomal disorders |
| 1.Zellweger 氏症候群 Zellweger syndrome |
| 2.腎上腺腦白質失養症 Adrenoleukodystrophy |
| 3.肢近端型點狀軟骨發育不良 Rhizomelic chondrodysplasia punctata |
| A11其他代謝異常 Other metabolic disorders |
| 1.紫質症 Porphyria |
| 2.Lesch-Nyhan 氏症候群 Lesch-Nyhan syndrome |
| 3.亞硫酸鹽氧化酶缺乏 Sulfite oxidase deficiency |
| 4.先天性醣基化障礙 Congenital disorder of glycosylation, CDG |
| 5.三甲基胺尿症 Trimethylaminuria |
| 6.低磷酸酯酶症 Hypophosphatasia |
| 7.Beta 硫解酶缺乏症 Beta-Ketothiolase deficiency |
| 8.大腦肌酸缺乏症 Cerebral creatine deficiency |
| 9.硫胺素(維生素B1)代謝功能障礙症候群 Thiamine metabolism dysfunction syndromes |
| B.腦部或神經系統異常 Disorders of the brain or nervous system |
| 1.多發性硬化症/泛視神經脊髓炎 Multiple sclerosis, MS/ Neuromyelitis optica spectrum disorders, NMOSD |
| 2.肌萎縮性側索硬化症 Amyotrophic lateral sclerosis (ALS) |
| 3.共濟失調微血管擴張症候群 Ataxia telangiectasia |
| 4.亨丁頓氏舞蹈症 Huntington disease(又稱 Huntington's chorea) |
| 5.雷特氏症 Rett syndrome |
| 6.脊髓性肌肉萎縮症 Spinal muscular atrophy |
| 7.脊髓小腦退化性動作協調障礙 Spinocerebellar ataxia |
| 8.結節性硬化症 Tuberous sclerosis |
| 9.結節性硬化症 Tuberous sclerosis |
| 10.神經纖維瘤症候群第二型 Neurofibromatosis type Ⅱ |
| 11.Alexander 氏病 Alexander disease |
| 12.僵體症候群 Stiffperson syndrome |
| 13.遺傳性痙攣性下身麻痺 Hereditary spastic paraplegia |
| 14.Joubert 氏症候群(家族性小腦蚓部發育不全) Joubert syndrome |
| 15.Pelizaeus-Merzbacher 氏症(慢性兒童型腦硬化症) Pelizaeus-Merzbacher disease |
| 16.夏柯-馬利-杜斯氏症 Charcot-Marie-Tooth disease |
| 17.甘迺迪氏症(脊髓延髓性肌肉萎縮症) Kennedy disease |
| 18.家族性澱粉樣多發性神經病變 Familial amyloidotic polyneuropathy |
| 19.Moebius 症候群 Moebius syndrome |
| 20.Mcleod 症候群 Mcleod syndrome |
| 21.Aicardi-Goutieres 症候群 Aicardi-Goutieres syndrome |
| 22.MECP2綜合症候群 Methyl CpG binding protein 2 duplication syndrome (MECP2 duplication syndrome) |
| 23.Dravet 症候群 Dravet syndrome, DS |
| 24.腦白質消失症 Vanishing white matter disease |
| 25.泛酸鹽激酶關聯之神經退化性疾病 Pantothenate kinase associated neurodegeneration (PKAN) |
| 26.磷脂質脂解酶 A2關聯之神經退化性疾病 Phospholipase A2-associated neurodegeneration (PLAN) |
| 27.皮特-霍普金斯症候群 Pitt-Hopkins syndrome |
| 28.Beta螺旋狀蛋白關聯之神經退化疾病Beta-Propeller protein-associated neurodegeneration (BPAN) |
| 29.嬰兒型上行性遺傳性痙攣性麻痺 Infantile-onset ascending hereditary spastic paralysis, IAHSP |
| 30.先天性中樞性換氣不足症候群 Congenital central hypoventilation syndrom |
| 31.Von Hippel-Lindau症候群 Von Hippel-Lindau disease |
| 32.Basilicata-Akhtar症候群 Basilicata-Akhtar syndrome |
| 33.舞蹈症-棘紅細胞增多症 Chorea-acanthocytosis |
| C.呼吸循環系統異常 Disorders of the respiratory/circulation system |
| 1.特發性嬰兒動脈硬化症 Idiopathic infantile arterial calcificatio |
| 2.囊狀纖維化症 Cystic fibrosis |
| 3.特發性或遺傳性肺動脈高壓Idiopathic or Heritable pulmonary arterial hypertension (IPAH or HPAH) |
| 4.Holt-Oram 氏症候群 Holt-Oram syndrome |
| 5.Andersen 氏症候群(心節律障礙暨週期性麻痺症候群；鉀離子通道病變) Andersen syndrome |
| 6.遺傳性出血性血管擴張症 Hereditary hemorrhagic telangiectasia |
| 7.窒息性胸腔失養症 Asphyxiating thoracic dystrophy |
| more... |
