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., ...Daha Fazla

Journal of Pediatric Endocrinology and Metabolism, cilt.34, sa.10, ss.1335-1339, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Sayı: 10
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1515/jpem-2021-0258
  • Dergi Adı: Journal of Pediatric Endocrinology and Metabolism
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.1335-1339
  • Anahtar Kelimeler: glycogen storage disease type XII, hemolytic anemia, rhabdomyolysis, ALDOLASE
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

© 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.