1. Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.
- Author
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Al Jasmi, Fatma, Al Jumah, Mohammed, Alqarni, Fatimah, Al-Sanna'a, Nouriya, Al-Sharif, Fawziah, Bohlega, Saeed, Cupler, Edward J., Fathalla, Waseem, Hamdan, Mohamed A., Makhseed, Nawal, Nafissi, Shahriar, Nilipour, Yalda, Selim, Laila, Shembesh, Nuri, Sunbul, Rawda, Hassan Tonekaboni, Seyed, MENA Pompe Working Group, and Tonekaboni, Seyed Hassan
- Subjects
CONSENSUS (Social sciences) ,MEDICAL protocols ,DIAGNOSIS ,INBORN errors of carbohydrate metabolism ,THERAPEUTICS - 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. [ABSTRACT FROM AUTHOR]- Published
- 2015
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