Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.

ABSTRACT: Lysosomal storage disorders (LSDs) in adults have milder phenotype and variable age at presentation. Several studies have described the phenotype, genotype and treatment outcomes for adult-onset LSDs like Gaucher, Fabry, Pompe disease and others. We describe the first systematic study on the occurrence of LSDs in an adult population from India. It describes, the key clinical signs seen in these patients and those from literature review that can aid in early detection. Of 2102 biochemically diagnosed LSDs cases, 32 adult patients were identified with LSDs. Based on the clinical suspicion, screening test and enzyme study was carried out. Twenty-two patients were subjected to a genetic study to identify the causative variant in a respective gene. Of the 32 adult patients, we observed a maximu

SUBMITTER: Sheth J 

PROVIDER: S-EPMC10910243 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature