A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis - case report

• Main Authors: Lucia Santoro (Author), Dorina Pjetraj (Author), Virtut Velmishi (Author), Carmen Campana (Author), Carlo Catassi (Author), Carlo Dionisi-Vici (Author), Arianna Maiorana (Author)
• Format: Book
• Published: BMC, 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Glycogen storage disease type XII is a rare metabolic disease resulting from Aldolase A deficiency that causes muscle glycogen accumulation, with crisis of rhabdomyolysis and hemolytic anemia. In the very few cases described, rhabdomyolysis crises are caused by fever and/or exerc...