Aldolase A deficiency: Report of new cases and literature review

Abstract

Aldolase A (ALDOA), is the predominant isoform of aldolase in skeletal muscle and erythrocytes that catalyzes the reversibleconversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate. Autosomal recessive mutations in ALDOA, are extremely rare and cause hemolytic anemia and/or recurrent episodes of rhabdomyolysis, usually precipitated by fever. In this report we describe, clinical, laboratory and genetic data of two novel unrelated patients harboring mutations in the ALDOA gene who presented with episodic rhabdomyolysis, we review all previously published cases and discuss the most valuable features for diagnosis of this rare disorder.

Highlights

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  Recessive mutations in the ALDOA gene are rare cause of episodic rhabdomyolysis.

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  We report two novel, unrelated patients harboring mutations in the ALDOA gene presenting with recurrent rhabdomyloysis.

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  Patients with ALDOA deficiency show a rather homogeneous phenotype with episodes of rhabdomyolysis, associated either with hemolysis and/or learning disabilities.