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

J Pediatr Endocrinol Metab. 2021 Jun 28;34(10):1335-1339. doi: 10.1515/jpem-2021-0258. Print 2021 Oct 26.

Abstract

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.

Keywords: glycogen storage disease type XII; hemolytic anemia; rhabdomyolysis.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Hemolytic / diagnosis
  • Anemia, Hemolytic / etiology*
  • Child, Preschool
  • Consanguinity
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Fructose-Bisphosphate Aldolase / genetics
  • Glycogen Storage Disease / complications*
  • Glycogen Storage Disease / diagnosis
  • Glycogen Storage Disease / genetics
  • Humans
  • Infant
  • Male
  • Rhabdomyolysis / diagnosis
  • Rhabdomyolysis / etiology*

Substances

  • ALDOA protein, human
  • Fructose-Bisphosphate Aldolase

Supplementary concepts

  • Glycogen Storage Disease XII