Diagnosis and Treatment of Late-Onset Pompe Disease in the Middle East and North Africa Region: Consensus Recommendations From an Expert Group Publisher Pubmed



Al Jasmi F¹ ; Al Jumah M^{2, 3} ; Alqarni F⁴ ; Alsannaa N⁵ ; Alsharif F⁶ ; Bohlega S⁷ ; Cupler EJ⁸ ; Fathalla W⁹ ; Hamdan MA¹⁰ ; Makhseed N¹¹ ; Nafissi S¹² ; Nilipour Y¹³ ; Selim L¹⁴ ; Shembesh N¹⁵ Show All Authors
Source: BMC Neurology Published:2015

Abstract

Background: Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms. Methods: An expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease for the MENA region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities. Results: These guidelines set out practical recommendations and include algorithms for the diagnosis and treatment of late-onset Pompe disease. They detail the ideal diagnostic workup, indicate the patients in whom enzyme replacement therapy should be initiated, and provide guidance on appropriate patient monitoring. Conclusions: These guidelines will serve to increase awareness of the condition, optimize patient diagnosis and treatment, reduce disease burden, and improve patient outcomes. © 2015 Al Jasmi et al.