Glycogen storage disease in two sisters: A case report

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 defi...

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Autores principales: Twanabasu, Sajal, Duwadee, Prabin, Homagain, Sushan, Ghimire, Jeevan, Rijal, Ram Chandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10160815/
https://www.ncbi.nlm.nih.gov/pubmed/37151946
http://dx.doi.org/10.1002/ccr3.7318
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author Twanabasu, Sajal
Duwadee, Prabin
Homagain, Sushan
Ghimire, Jeevan
Rijal, Ram Chandra
author_facet Twanabasu, Sajal
Duwadee, Prabin
Homagain, Sushan
Ghimire, Jeevan
Rijal, Ram Chandra
author_sort Twanabasu, Sajal
collection PubMed
description 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.
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spelling pubmed-101608152023-05-06 Glycogen storage disease in two sisters: A case report Twanabasu, Sajal Duwadee, Prabin Homagain, Sushan Ghimire, Jeevan Rijal, Ram Chandra Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2023-05-04 /pmc/articles/PMC10160815/ /pubmed/37151946 http://dx.doi.org/10.1002/ccr3.7318 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Twanabasu, Sajal
Duwadee, Prabin
Homagain, Sushan
Ghimire, Jeevan
Rijal, Ram Chandra
Glycogen storage disease in two sisters: A case report
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 Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10160815/
https://www.ncbi.nlm.nih.gov/pubmed/37151946
http://dx.doi.org/10.1002/ccr3.7318
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AT duwadeeprabin glycogenstoragediseaseintwosistersacasereport
AT homagainsushan glycogenstoragediseaseintwosistersacasereport
AT ghimirejeevan glycogenstoragediseaseintwosistersacasereport
AT rijalramchandra glycogenstoragediseaseintwosistersacasereport

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