Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder
Lysosomal storage disorders (LSDs) collectively constitute a significant public health burden in developing countries. Commoner LSDs include Gaucher, Fabry, and Niemann-Pick disease (NPD), but many cases remain undiagnosed. With the high incidence of consanguineous marriages, South East Asian countr...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2019/3108093 |
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| author | Inusha Panigrahi Manoj Dhanorkar Renu Suthar Chanchal Kumar Mullai Baalaaji Babu Ram Thapa Jasvinder Kalra |
| author_facet | Inusha Panigrahi Manoj Dhanorkar Renu Suthar Chanchal Kumar Mullai Baalaaji Babu Ram Thapa Jasvinder Kalra |
| author_sort | Inusha Panigrahi |
| collection | DOAJ |
| description | Lysosomal storage disorders (LSDs) collectively constitute a significant public health burden in developing countries. Commoner LSDs include Gaucher, Fabry, and Niemann-Pick disease (NPD), but many cases remain undiagnosed. With the high incidence of consanguineous marriages, South East Asian countries are expected to have high prevalence of these LSDs. Here we report 4 cases of NPD type A/B in 3 families presenting with hepatosplenomegaly and cytopenias including one family with two sibs having hypertension and mitral valve prolapse. The diagnosis of NPD was proven by mutation analysis with identification of novel mutations, including a novel 4 bp insertion mutation (C>CCTGG) in exon 2 of the SMPD1 gene. We also had two cases of NPD type C, confirmed on mutation analysis. |
| format | Article |
| id | doaj-art-8ae3190b6a3640ef9f834d0237e0e61d |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-8ae3190b6a3640ef9f834d0237e0e61d2025-02-03T01:26:44ZengWileyCase Reports in Genetics2090-65442090-65522019-01-01201910.1155/2019/31080933108093Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage DisorderInusha Panigrahi0Manoj Dhanorkar1Renu Suthar2Chanchal Kumar3Mullai Baalaaji4Babu Ram Thapa5Jasvinder Kalra6Department of Pediatrics, PGIMER, Chandigarh, IndiaDepartment of Pediatrics, PGIMER, Chandigarh, IndiaDepartment of Pediatrics, PGIMER, Chandigarh, IndiaDepartment of Pediatrics, PGIMER, Chandigarh, IndiaDepartment of Pediatrics, PGIMER, Chandigarh, IndiaDepartment of Gastroenterology, PGIMER, Chandigarh, IndiaDepartment of Obstetrics and Gynecology, PGIMER, Chandigarh, IndiaLysosomal storage disorders (LSDs) collectively constitute a significant public health burden in developing countries. Commoner LSDs include Gaucher, Fabry, and Niemann-Pick disease (NPD), but many cases remain undiagnosed. With the high incidence of consanguineous marriages, South East Asian countries are expected to have high prevalence of these LSDs. Here we report 4 cases of NPD type A/B in 3 families presenting with hepatosplenomegaly and cytopenias including one family with two sibs having hypertension and mitral valve prolapse. The diagnosis of NPD was proven by mutation analysis with identification of novel mutations, including a novel 4 bp insertion mutation (C>CCTGG) in exon 2 of the SMPD1 gene. We also had two cases of NPD type C, confirmed on mutation analysis.http://dx.doi.org/10.1155/2019/3108093 |
| spellingShingle | Inusha Panigrahi Manoj Dhanorkar Renu Suthar Chanchal Kumar Mullai Baalaaji Babu Ram Thapa Jasvinder Kalra Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder Case Reports in Genetics |
| title | Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder |
| title_full | Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder |
| title_fullStr | Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder |
| title_full_unstemmed | Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder |
| title_short | Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder |
| title_sort | niemann pick disease an underdiagnosed lysosomal storage disorder |
| url | http://dx.doi.org/10.1155/2019/3108093 |
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