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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Detalles Bibliográficos
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
Descripción
Sumario: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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