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

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...

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Detalles Bibliográficos
Autores principales: Santoro, Lucia, Pjetraj, Dorina, Velmishi, Virtut, Campana, Carmen, Catassi, Carlo, Dionisi-Vici, Carlo, Maiorana, Arianna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895104/
https://www.ncbi.nlm.nih.gov/pubmed/35246226
http://dx.doi.org/10.1186/s13052-022-01228-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895104/
https://www.ncbi.nlm.nih.gov/pubmed/35246226
http://dx.doi.org/10.1186/s13052-022-01228-3

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