Recurrent rhabdomyolysis as a presenting feature of glycogenosis IX (GSD IX): a case report

Rhabdomyolysis is the clinical picture characterized by the destruction of skeletal muscle. It is associated with the consequent elevation of serum creatine kinase above five times its standard value or greater than 1,000 U/L. Its most frequent causes are acquired. However, less frequent causes, such as congenital metabolic diseases, should be considered when the rhabdomyolysis event recurs. We describe the case of a pediatric patient with recurrent rhabdomyolysis, which triggered by a type IX glycogenosis with a PHKA1 gene mutation. This pathogenic variant generates muscle phosphorylase kinase enzyme deficiency, hindering the use of glycogen as an energy source during prolonged fasting or metabolic demands. We consider it essential to increase knowledge about these entities in the face of recurrent rhabdomyolysis in the pediatric age for early detection and timely referral to a specialist.