Fluorophore Carbohydrate Test--Lysosomal Storage Disease

The thirty known types of Lysomomal Storage Diseases (LSDs) collectively represent over 15% of allinborn errors of metabolism. The clinical indications of disease which include peripheral and CNS diretardation, skeletal defects and early childhood death are a result of the accumulation of incomplecarbohydrates and glycolipids in the cell. These incompletely degraded carbohydrates are excreted inamount and type of excreted carbohydrate can be used as diagnostic "markers" for the type of storagescreening assays for LSDs used by most clinical reference laboratories are insensitive, non-standarddisease identification is highly subjective. We have developed a highly sensitive and reliable methoquantifying urinary oligosaccharides based on fluorescence-assisted-carbohydrate- electrophoresis orFACE assay is being evaluated in the clinical laboratory as a method to identify children with oligoLSDs. This proposal outlines the development of a similar FACE assay which should result in a relatitest for mucopolysaccharidoses-type LSDs in children.