•A2胺基酸/有機酸代謝異常 Disorders of amino acid/organic acid metabolism
【罕病分類】│【查詢其他】
| •胺基酸代謝疾病Amino acid metabolic disorders (Aminoacidopathies) |
| •高胱胺酸尿症Homocystinuria |
| •高甲硫胺酸血症Hypermethioninemia |
| •非酮性高甘胺酸血症Nonketotic hyperglycinemia |
| •苯酮尿症Phenylketonuria |
| •四氫基喋呤缺乏症Tetrahydrobiopterin deficiency |
| •遺傳性高酪胺酸血症Hereditary tyrosinemia |
| •楓糖尿症Maple syrup urine disease |
| •有機酸血症Organic acidemias |
| •異戊酸血症Isovaleric acidemia |
| •戊二酸尿症，第一型、第二型Glutaric aciduria type I、II |
| •丙酸血症Propionic acidemia |
| •甲基丙二酸血症Methylmalonic acidemia |
| •3-羥基-3-甲基戊二酸血症3-Hydroxy-3-methylglutaric acidemia |
| •典型苯酮尿症合併蔗糖酶同麥芽糖酶缺乏症PAH type PKU combine with sucrase-isomaltase deficiency |
| •高離胺酸血症Hyperlysinemia |
| •組胺酸血症Histidinemia |
| •三甲基巴豆醯輔酶A羧化酵素缺乏症3-Methylcrotonyl-CoA carboxylase deficiency |
| •多發性羧化酶缺乏症Multiple carboxylase deficiency |
| •高脯胺酸血症Hyperprolinemia |
| •芳香族L-胺基酸類脫羧基酶缺乏症Aromatic L-amino acid decarboxylase deficiency |
| •酪胺酸羥化酶缺乏症Tyrosine hydroxylase deficiency |
| •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) |
| •原發性高草酸鹽尿症Primary hyperoxaluria |
| •黑尿症Alkaptonuria |