进行性视锥细胞营养不良中的正常α-L-岩藻糖苷酶及其他溶酶体酶活性

Normal alpha-L-fucosidase and other lysosomal enzyme activities in progressive cone dystrophy.

作者信息

Stoumbos V D, Weleber R G, Kennaway N G

机构信息

Department of Ophthalmology, Oregon Health Sciences University, Portland 97201.

出版信息

Am J Ophthalmol. 1988 Jul 15;106(1):11-6. doi: 10.1016/s0002-9394(14)76380-9.

DOI:10.1016/s0002-9394(14)76380-9

PMID:3394762

Abstract

We conducted a cross-sectional study of 24 patients with cone dystrophy to investigate a possible link between this disease and deficient activity of alpha-L-fucosidase. We studied patients with several forms of cone dystrophy, including six with similar clinical characteristics to two patients previously reported to be alpha-L-fucosidase deficient. Activities for alpha-L-fucosidase and several other lysosomal enzymes (beta-D-glucuronidase, beta-D-hexosaminidase (A + B), and alpha-D-mannosidase) were determined in serum and leukocytes. None of our patients with cone dystrophy were deficient in alpha-L-fucosidase or any other lysosomal enzyme investigated. No relationship was found between alpha-L-fucosidase deficiency and any type of cone dystrophy studied.

摘要

我们对24例视锥细胞营养不良患者进行了一项横断面研究，以调查这种疾病与α-L-岩藻糖苷酶活性缺乏之间可能存在的联系。我们研究了几种形式的视锥细胞营养不良患者，其中6例患者的临床特征与之前报道的2例α-L-岩藻糖苷酶缺乏患者相似。测定了血清和白细胞中α-L-岩藻糖苷酶以及其他几种溶酶体酶（β-D-葡萄糖醛酸酶、β-D-己糖胺酶（A + B）和α-D-甘露糖苷酶）的活性。我们的视锥细胞营养不良患者中没有一例存在α-L-岩藻糖苷酶或所研究的任何其他溶酶体酶缺乏。在所研究的α-L-岩藻糖苷酶缺乏与任何类型的视锥细胞营养不良之间未发现相关性。