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.
• Notes: 10.1186/s13052-022-01228-3; 1824-7288
• Keywords: Glycogen Storage Disease type XII; Aldolase A Deficiency; ALDOA Deficiency; 24 GSD XII; Ketogenic Diet; Pediatrics; RJ1-570
• Source: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-5 (2022)

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 exercise and can accompany acute hemolytic anemia. Although currently there is no therapy available for this disease, the guidelines for the management of other forms of glycogen storage diseases recommend a nutritional therapy in order to avoid hypoglycemia or prevent exercise-induced rhabdomyolysis. Case presentation In this case report we describe a new phenotype of the disease in a 14-year-old boy, characterized by seizures and rhabdomyolysis. Beside an antiepileptic treatment, we propose a new therapeutic approach based on ketogenic diet in order to supply an energetic substrate for skeletal muscle and neurons. Conclusions The anti-epileptic therapy and the dietetic approach were well tolerated by the patient who showed good compliance. This led to a deceleration of the disease with no other acute episodes of seizures and rhabdomyolysis, without any side effects observed.