title: Normal alpha-L-fucosidase and other lysosomal enzyme activities in progressive cone dystrophy.
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.
authors.affiliation: Department of Ophthalmology, Oregon Health Sciences University, Portland 97201.
authors.forename: V D
authors.initials: VD
authors.lastname: Stoumbos
authors.forename: R G
authors.initials: RG
authors.lastname: Weleber
authors.forename: N G
authors.initials: NG
authors.lastname: Kennaway
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D008247:Lysosomes / Q000201:enzymology*; D008297:Male; D008875:Middle Aged; D010786:Photoreceptor Cells; D012016:Reference Values; D012164:Retinal Diseases / Q000201:enzymology; D005644:alpha-L-Fucosidase / Q000378:metabolism*
chemical_list: D005644:alpha-L-Fucosidase