Glycogen storage disease in two sisters: A case report.
glycogen storage disease
hepatomegaly
hypoglycemia
metabolic
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
May 2023
May 2023
Historique:
received:
12
03
2023
revised:
08
04
2023
accepted:
14
04
2023
medline:
8
5
2023
pubmed:
8
5
2023
entrez:
8
5
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37151946
doi: 10.1002/ccr3.7318
pii: CCR37318
pmc: PMC10160815
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e7318Informations de copyright
© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
The authors have no conflict of interest to declare.
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