| 中文名稱 | 貓黏脂質症 |
|---|---|
| 英文名稱 | Mucolipidosis in cats |
| 建立日期 | 2007/11/01 |
| 更新日期 | 2007/11/01 |
| 中文描述 | 貓會出現不正常的臉部表情,並且後肢會出現癱瘓.皮膚也會全面性的變厚.在x光下面看會有畸形的脊柱,雙側性的髖關節脫臼,不正常的頭骨形狀,並且會有全面性的骨密度下降.生化調查顯示是周邊的白血球缺少了一種酵素,N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase, EC 2.7.8.17),並且在病貓的血液中出現了很多的溶體酵素.這是第二型的貓黏脂質症的診斷. |
| 英文描述 | A cat developed abnormal facial features and progressive hindlimb paresis. The skin was generally thickened. On radiography there was a deformed spinal column, bilateral hip luxation with hip dysplasia, an abnormally shaped skull and generalized decreased bone opacity. Biochemical investigations revealed a deficiency in peripheral lukocytes of the enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase, EC 2.7.8.17) and an elevation of many lysosomal enzymes in the serum of the cat. This was diagnostic for mucolipidosis type II. |