Glycogen storage disease type XII; An ultra rare cause of hemolytic anemia and rhabdomyolysis: One new case report

Kara E., KOR D., Bulut F. D., Hergüner Ö., CEYLANER S., Köşeci B., ...More

Journal of Pediatric Endocrinology and Metabolism, vol.34, no.10, pp.1335-1339, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 34 Issue: 10
  • Publication Date: 2021
  • Doi Number: 10.1515/jpem-2021-0258
  • Journal Name: Journal of Pediatric Endocrinology and Metabolism
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.1335-1339
  • Keywords: glycogen storage disease type XII, hemolytic anemia, rhabdomyolysis, ALDOLASE
  • Lokman Hekim University Affiliated: No


© 2021 Walter de Gruyter GmbH, Berlin/Boston.Objectives: Aldolase A deficiency also known as glycogen storage disease (GSD) XII, is an ultra rare autosomal recessively inherited GSD, associated with hemolytic anemia and rhabdomyolysis. Case presentation: Here, we first report a patient with dermatological findings, hemodialysis requirement for rhabdomyolysis, and a novel likely pathogenic c.971C>T (p.A324V) mutation in the ALDOA gene. Conclusions: Episodes of rhabdomyolysis can be triggered by febrile illnesses and catabolic processes. Diagnosis should be confirmed by the mutation analysis of ALDOA gene. Treatment includes management of hemolytic anemia and administration of antipyretics during febrile episodes to avoid hemolysis and rhabdomyolysis.