Glycogen storage disease in two sisters: A case report
Key Clinical Message Glycogen storage diseases (GSDs) are rare autosomal disorders that result from defects in glycogen metabolism. There are more than 12 types, each with distinct clinical features. Clinical scenario, biochemical abnormalities are useful for suspicion whereas liver biopsy and enzym...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2023-05-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.7318 |
| _version_ | 1797820428565086208 |
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| author | Sajal Twanabasu Prabin Duwadee Sushan Homagain Jeevan Ghimire Ram Chandra Rijal |
| author_facet | Sajal Twanabasu Prabin Duwadee Sushan Homagain Jeevan Ghimire Ram Chandra Rijal |
| author_sort | Sajal Twanabasu |
| collection | DOAJ |
| description | Key Clinical Message Glycogen storage diseases (GSDs) are rare autosomal disorders that result from defects in glycogen metabolism. There are more than 12 types, each with distinct clinical features. Clinical scenario, biochemical abnormalities are useful for suspicion whereas liver biopsy and enzyme assay provides definite diagnosis. We report a case of two sisters with similar clinical symptoms suggestive of the disease. |
| first_indexed | 2024-03-13T09:38:12Z |
| format | Article |
| id | doaj.art-328f7c5a2b434178b0b044cfdeb9f8e2 |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-03-13T09:38:12Z |
| publishDate | 2023-05-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-328f7c5a2b434178b0b044cfdeb9f8e22023-05-25T05:58:39ZengWileyClinical Case Reports2050-09042023-05-01115n/an/a10.1002/ccr3.7318Glycogen storage disease in two sisters: A case reportSajal Twanabasu0Prabin Duwadee1Sushan Homagain2Jeevan Ghimire3Ram Chandra Rijal4Dhading Hospital Nilkantha Municipality Dhading NepalDhading Hospital Nilkantha Municipality Dhading NepalDhading Hospital Nilkantha Municipality Dhading NepalDhading Hospital Nilkantha Municipality Dhading NepalDhading Hospital Nilkantha Municipality Dhading NepalKey Clinical Message Glycogen storage diseases (GSDs) are rare autosomal disorders that result from defects in glycogen metabolism. There are more than 12 types, each with distinct clinical features. Clinical scenario, biochemical abnormalities are useful for suspicion whereas liver biopsy and enzyme assay provides definite diagnosis. We report a case of two sisters with similar clinical symptoms suggestive of the disease.https://doi.org/10.1002/ccr3.7318glycogen storage diseasehepatomegalyhypoglycemiametabolic |
| spellingShingle | Sajal Twanabasu Prabin Duwadee Sushan Homagain Jeevan Ghimire Ram Chandra Rijal Glycogen storage disease in two sisters: A case report Clinical Case Reports glycogen storage disease hepatomegaly hypoglycemia metabolic |
| title | Glycogen storage disease in two sisters: A case report |
| title_full | Glycogen storage disease in two sisters: A case report |
| title_fullStr | Glycogen storage disease in two sisters: A case report |
| title_full_unstemmed | Glycogen storage disease in two sisters: A case report |
| title_short | Glycogen storage disease in two sisters: A case report |
| title_sort | glycogen storage disease in two sisters a case report |
| topic | glycogen storage disease hepatomegaly hypoglycemia metabolic |
| url | https://doi.org/10.1002/ccr3.7318 |
| work_keys_str_mv | AT sajaltwanabasu glycogenstoragediseaseintwosistersacasereport AT prabinduwadee glycogenstoragediseaseintwosistersacasereport AT sushanhomagain glycogenstoragediseaseintwosistersacasereport AT jeevanghimire glycogenstoragediseaseintwosistersacasereport AT ramchandrarijal glycogenstoragediseaseintwosistersacasereport |