Aldolase A deficiency: Report of new cases and literature review

C Papadopoulos; M Svingou; K Kekou; S Vergnaud; S Xirou; G Niotakis; G K Papadimas

doi:10.1016/j.ymgmr.2021.100730

Aldolase A deficiency: Report of new cases and literature review

Mol Genet Metab Rep. 2021 Feb 23:27:100730. doi: 10.1016/j.ymgmr.2021.100730. eCollection 2021 Jun.

Authors

C Papadopoulos¹, M Svingou², K Kekou², S Vergnaud³, S Xirou¹, G Niotakis⁴, G K Papadimas¹

Affiliations

¹ 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Greece.
² Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece.
³ Département de Biochimie, Toxicologie et Pharmacologie, CHU de Grenoble, Centre de Référence Rhône-Alpes des Maladies NeuroMusculaires, Grenoble, France.
⁴ Pediatric Neurology Clinics, Venizeleion General Hospital, Heraklion, Crete, Greece.

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.

Keywords: Aldolase A; Aldolase A, ALDOA; Hemolytic anemia; Rhabdomyolysis; electromyography, EMG; glycogen storage disease type, GSD.

Publication types

Case Reports