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 th...
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| Format: | Article |
| Language: | English |
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Wiley
2024-03-01
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| Series: | JIMD Reports |
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| Online Access: | https://doi.org/10.1002/jmd2.12407 |
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| author | Jayesh Sheth Aadhira Nair Riddhi Bhavsar Koumudi Godbole Chaitanya Datar Sheela Nampoothiri Inusha Panigrahi Heli Shah Shruti Bajaj Naresh Tayade Naveen Bhardwaj Harsh Sheth |
| author_facet | Jayesh Sheth Aadhira Nair Riddhi Bhavsar Koumudi Godbole Chaitanya Datar Sheela Nampoothiri Inusha Panigrahi Heli Shah Shruti Bajaj Naresh Tayade Naveen Bhardwaj Harsh Sheth |
| author_sort | Jayesh Sheth |
| collection | DOAJ |
| description | 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 maximum percentage of 37.5% (n = 12) cases with Gaucher disease, followed by 13% (n = 4) 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‐Pick disease B and metachromatic leukodystrophy were identified. We observed two common variants p.Leu483Pro and p.Ala487Thr in the GBA1 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. |
| first_indexed | 2024-03-07T16:19:09Z |
| format | Article |
| id | doaj.art-cdb338da0152491e98a3940c956fe97f |
| institution | Directory Open Access Journal |
| issn | 2192-8312 |
| language | English |
| last_indexed | 2024-03-07T16:19:09Z |
| publishDate | 2024-03-01 |
| publisher | Wiley |
| record_format | Article |
| series | JIMD Reports |
| spelling | doaj.art-cdb338da0152491e98a3940c956fe97f2024-03-04T07:55:52ZengWileyJIMD Reports2192-83122024-03-016528510110.1002/jmd2.12407Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literatureJayesh Sheth0Aadhira Nair1Riddhi Bhavsar2Koumudi Godbole3Chaitanya Datar4Sheela Nampoothiri5Inusha Panigrahi6Heli Shah7Shruti Bajaj8Naresh Tayade9Naveen Bhardwaj10Harsh Sheth11Department of Molecular and Biochemical Genetics FRIGE's Institute of Human Genetics Ahmedabad IndiaDepartment of Molecular and Biochemical Genetics FRIGE's Institute of Human Genetics Ahmedabad IndiaDepartment of Molecular and Biochemical Genetics FRIGE's Institute of Human Genetics Ahmedabad IndiaDepartment of Clinical Genetics Deenanath Mangeshkar Hospital & Research Centre Pune IndiaDepartment of Clincial Genetics Bharati Hospital and Research Centre Pune IndiaDepartment of Paediatrics Amrita School of Medicine Kochi IndiaDepartment of Pediatrics Postgraduate Institute of Medical Education and Research, PGIMER Chandigarh IndiaDepartment of Pediatrics Smt. NHL Municipal Medical College Ahmedabad IndiaThe Purple Gene Clinic Mumbai IndiaDepartment of Pediatrics Dr. Panjabrao Deshmukh Memorial Medical College Amravati IndiaDepartment of Pediatrics AIIMS Hospital Bhatinda Punjab IndiaDepartment of Molecular and Biochemical Genetics FRIGE's Institute of Human Genetics Ahmedabad IndiaAbstract 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 maximum percentage of 37.5% (n = 12) cases with Gaucher disease, followed by 13% (n = 4) 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‐Pick disease B and metachromatic leukodystrophy were identified. We observed two common variants p.Leu483Pro and p.Ala487Thr in the GBA1 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.https://doi.org/10.1002/jmd2.12407adult‐onset LSDsFabry diseaseGaucher diseasep.Leu483pro |
| spellingShingle | Jayesh Sheth Aadhira Nair Riddhi Bhavsar Koumudi Godbole Chaitanya Datar Sheela Nampoothiri Inusha Panigrahi Heli Shah Shruti Bajaj Naresh Tayade Naveen Bhardwaj Harsh Sheth Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature JIMD Reports adult‐onset LSDs Fabry disease Gaucher disease p.Leu483pro |
| title | Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature |
| title_full | Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature |
| title_fullStr | Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature |
| title_full_unstemmed | Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature |
| title_short | Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature |
| title_sort | lysosomal storage disorders identified in adult population from india experience of a tertiary genetic centre and review of literature |
| topic | adult‐onset LSDs Fabry disease Gaucher disease p.Leu483pro |
| url | https://doi.org/10.1002/jmd2.12407 |
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