検査項目解説
| 検査名 | α-ガラクトシダーゼ |
| 英検査名 | α-Galactosidase |
| 検体基準範囲 |
血清0.074～0.457U/L 線維芽細胞 |
| 測定法 | 蛍光法 |
| 基準範囲出典 |
1.Desnick RJ, Ioannou YA, Eng CM: Chapter 150: Alpha-galactosidase A deficiency: Fabry disease. In The Metabolic Basis of Inherited Disease. Eighth edition. Edited by D Valle, AL Beaudet, B Vogelstein. New York, McGraw-Hill Book Company. Accessed 01/23/15. Available at www.ommbid.com 2.De Schoenmakere G, Poppe B, Wuyts B, et al: Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients. Nephrol Dial Transplant 2008;23:4044-4048 3.Mehta A, Hughes DA: Fabry Disease. In GeneReviews. 2002 Aug 5, Updated 2013 Oct 17. Edited by RA Pagon, MP Adam, HH Ardinger, et al: Seattle, WA. University of Washington, Seattle; 1993-2015. Accessed 1/23/17. Available at www.ncbi.nlm.nih.gov/books/NBK1292/ 4.Laney DA, Bennett RL, Clarke V, et al: Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns 2013;22:555-564 5.Laney DA, Peck DS, Atherton AM, et al: Fabry disease in infancy and early childhood: a systematic literature review. Genet Med 2014;Epub ahead of print. Accessed 1/23/15. Available at www.nature.com/gim/journal/vaop/ncurrent/pdf/gim2014120a.pdf |
| 解説 |
α-ガラクトシダーゼは全身の細胞内のライゾゾームに分布する加水分解酵素で、この酵素活性の欠損や低下が起こると先天性スフィンゴ糖脂質代謝異常症のFabry病を発症する。 低値（血清）：Fabry病、1型糖尿病、鎌型赤血球症 低値（線維芽細胞）：Fabry病 |