Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.

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.

• Authors: MENA Pompe Working Group, Fatma Al Jasmi, Mohammed Al Jumah, Fatimah Alqarni, Nouriya Al-Sanna'a, Fawziah Al-Sharif, Saeed Bohlega, Edward J Cupler, Waseem Fathalla, Mohamed A Hamdan, Nawal Makhseed, Shahriar Nafissi, Yalda Nilipour, Laila Selim, Nuri Shembesh, Rawda Sunbul, Seyed Hassan Tonekaboni
• Journal: BMC neurology (BMC Neurol) Vol. 15 Pg. 205 (Oct 15 2015) ISSN: 1471-2377 [Electronic] England
• PMID: 26471939 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Africa, Northern (epidemiology)
• Consensus
• Glycogen Storage Disease Type II (diagnosis, epidemiology, genetics, therapy)
• Humans
• Middle East (epidemiology)
• Practice Guidelines as Topic