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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\u2010two patients were subjected to a genetic study to identify the causative variant in a respective gene. Of the 32 adult patients, we observed a maximum percentage of 37.5% (<jats:italic>n<\/jats:italic>\u2009=\u200912) cases with Gaucher disease, followed by 13% (<jats:italic>n<\/jats:italic>\u2009=\u20094) with Fabry disease. We found 10% of cases with MPS IVA and MPS I, and 9% cases with Pompe. Single case of adult mucolipidosis III and two cases each of Type 1 Sialidosis, Niemann\u2010Pick disease B and metachromatic leukodystrophy were identified. We observed two common variants p.Leu483Pro and p.Ala487Thr in the <jats:italic>GBA1<\/jats:italic> gene in 23% of Indian patients with adult Gaucher disease. No common variants were observed in other aforementioned LSDs. Study identified 50% of Fabry patients and 4% of Gaucher patients diagnosed at our centre to be adults. The prevalence of adult Pompe patients was low (3.4%) as compared to 80% reported in the Caucasian population. Adult LSDs such as, MPS III, GM1\/GM2 gangliosidosis and Krabbe disease were not identified in our cohort.<\/jats:p>","DOI":"10.1002\/jmd2.12407","type":"journal-article","created":{"date-parts":[[2024,1,3]],"date-time":"2024-01-03T02:48:25Z","timestamp":1704250105000},"page":"85-101","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Lysosomal storage disorders identified in adult population from <scp>India<\/scp>: <scp>Experience<\/scp> of a tertiary genetic centre and review of literature"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5936-5192","authenticated-orcid":false,"given":"Jayesh","family":"Sheth","sequence":"first","affiliation":[{"name":"Department of Molecular and Biochemical Genetics FRIGE's Institute of Human Genetics  Ahmedabad India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aadhira","family":"Nair","sequence":"additional","affiliation":[{"name":"Department of Molecular and Biochemical Genetics FRIGE's Institute of Human Genetics  Ahmedabad India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riddhi","family":"Bhavsar","sequence":"additional","affiliation":[{"name":"Department of Molecular and Biochemical Genetics FRIGE's Institute of Human Genetics  Ahmedabad India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koumudi","family":"Godbole","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Deenanath Mangeshkar Hospital &amp; Research Centre  Pune India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaitanya","family":"Datar","sequence":"additional","affiliation":[{"name":"Department of Clincial Genetics Bharati Hospital and Research Centre  Pune India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheela","family":"Nampoothiri","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Amrita School of Medicine  Kochi India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inusha","family":"Panigrahi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Postgraduate Institute of Medical Education and Research, PGIMER  Chandigarh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heli","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Smt. 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