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Article

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

Italian journal of pediatrics - 4 Mar 2022

Santoro Lucia, Pjetraj Dorina, Velmishi Virtut, Campana Carmen, Catassi Carlo, Dionisi-Vici Carlo, Maiorana Arianna

Abstract excerpt

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...

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Identifiers

PMID: 35246226
DOI: 10.1186/s13052-022-01228-3
PMCID: PMC8895104

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