Adults with lysosomal storage diseases in the undiagnosed diseases network
Abstract Objectives To review the referral and clinical characteristics of adult patients diagnosed with lysosomal storage diseases (LSD) through the Undiagnosed Diseases Network (UDN). Methods Retrospective review of both application and evaluation records for adults admitted to the UDN with a fina...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-09-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.2013 |
| _version_ | 1798000706336063488 |
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| author | Changrui Xiao Mary Koziura Heidi Cope Rebecca Spillman Khoon Tan Fuki M. Hisama Cynthia J. Tifft Camilo Toro |
| author_facet | Changrui Xiao Mary Koziura Heidi Cope Rebecca Spillman Khoon Tan Fuki M. Hisama Cynthia J. Tifft Camilo Toro |
| author_sort | Changrui Xiao |
| collection | DOAJ |
| description | Abstract Objectives To review the referral and clinical characteristics of adult patients diagnosed with lysosomal storage diseases (LSD) through the Undiagnosed Diseases Network (UDN). Methods Retrospective review of both application and evaluation records for adults admitted to the UDN with a final diagnosis of a lysosomal storage disease. Results Ten patients were identified. Final diagnoses included late onset Tay Sachs, attenuated MPS I, MPS IIIA, MPS IIIB, and MPS IIIC. Most patients presented with neurocognitive changes. Prior to referral, all patients had been evaluated by neurology, four patients underwent phenotype specific panel testing that did not include the causative gene, and four patients had non‐diagnostic clinical exome sequencing. Conclusions LSDs figure highly in the differential diagnosis of neurometabolic disorders in pediatric onset progressive diseases. In adults, their subtle initial presentations overlap with symptoms of more common disorders and less practitioner awareness may lead to prolonged diagnostic challenges. |
| first_indexed | 2024-04-11T11:24:41Z |
| format | Article |
| id | doaj.art-3eac85704c3a490293b000c15c889f13 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-04-11T11:24:41Z |
| publishDate | 2022-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-3eac85704c3a490293b000c15c889f132022-12-22T04:26:19ZengWileyMolecular Genetics & Genomic Medicine2324-92692022-09-01109n/an/a10.1002/mgg3.2013Adults with lysosomal storage diseases in the undiagnosed diseases networkChangrui Xiao0Mary Koziura1Heidi Cope2Rebecca Spillman3Khoon Tan4Fuki M. Hisama5Cynthia J. Tifft6Camilo Toro7National Human Genome Research Institute Bethesda Maryland USADepartment of Pediatrics Division of Medical Genetics and Genomic Medicine Vanderbilt University Medical Center Nashville Tennessee USADepartment of Pediatrics, Medical Genetics Duke University Medical Center Durham North Carolina USADepartment of Pediatrics, Medical Genetics Duke University Medical Center Durham North Carolina USADepartment of Pediatrics, Medical Genetics Duke University Medical Center Durham North Carolina USADepartment of Medicine Division of Medical Genetics University of Washington School of Medicine Seattle Washington USANational Human Genome Research Institute Bethesda Maryland USANational Human Genome Research Institute Bethesda Maryland USAAbstract Objectives To review the referral and clinical characteristics of adult patients diagnosed with lysosomal storage diseases (LSD) through the Undiagnosed Diseases Network (UDN). Methods Retrospective review of both application and evaluation records for adults admitted to the UDN with a final diagnosis of a lysosomal storage disease. Results Ten patients were identified. Final diagnoses included late onset Tay Sachs, attenuated MPS I, MPS IIIA, MPS IIIB, and MPS IIIC. Most patients presented with neurocognitive changes. Prior to referral, all patients had been evaluated by neurology, four patients underwent phenotype specific panel testing that did not include the causative gene, and four patients had non‐diagnostic clinical exome sequencing. Conclusions LSDs figure highly in the differential diagnosis of neurometabolic disorders in pediatric onset progressive diseases. In adults, their subtle initial presentations overlap with symptoms of more common disorders and less practitioner awareness may lead to prolonged diagnostic challenges.https://doi.org/10.1002/mgg3.2013adult metabolic medicineLate Onet Tay Sachslysosomal storage disordersMPS IMPS III |
| spellingShingle | Changrui Xiao Mary Koziura Heidi Cope Rebecca Spillman Khoon Tan Fuki M. Hisama Cynthia J. Tifft Camilo Toro Adults with lysosomal storage diseases in the undiagnosed diseases network Molecular Genetics & Genomic Medicine adult metabolic medicine Late Onet Tay Sachs lysosomal storage disorders MPS I MPS III |
| title | Adults with lysosomal storage diseases in the undiagnosed diseases network |
| title_full | Adults with lysosomal storage diseases in the undiagnosed diseases network |
| title_fullStr | Adults with lysosomal storage diseases in the undiagnosed diseases network |
| title_full_unstemmed | Adults with lysosomal storage diseases in the undiagnosed diseases network |
| title_short | Adults with lysosomal storage diseases in the undiagnosed diseases network |
| title_sort | adults with lysosomal storage diseases in the undiagnosed diseases network |
| topic | adult metabolic medicine Late Onet Tay Sachs lysosomal storage disorders MPS I MPS III |
| url | https://doi.org/10.1002/mgg3.2013 |
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