Management of Mucopolysaccharidosis Type I in Saudi Arabia: Insights from Saudi Arabia

Sulaiman M. Al-Mayouf; Rawdah Al-Sunbul; Abdul Aziz Al-Twaim; Bassam Bin-Abbas; Marwan El-Bagoury; Maha Faden; Omar M. Hussein; Mohammed Olfat; Taghreed Shuaib; Yahia Aktham

doi:10.3889/oamjms.2020.5167

Authors

Sulaiman M. Al-Mayouf Department of Pediatrics, Pediatric Rheumatology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Rawdah Al-Sunbul Head of Genetic Unit, Qateef Central Hospital, Saudi Arabia
Abdul Aziz Al-Twaim Consultant Pediatric Endocrinology, King Abdulaziz Medical City, Ministry of National Guard, Saudi Arabia
Bassam Bin-Abbas Department of Pediatrics, Section of Endocrinology and Diabetes, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
Marwan El-Bagoury Department of Medical Affairs, Sanofi-Genzyme, Saudi Arabia
Maha Faden Consultant of Clinical Genetics and Skeletal Dysplasias, King Saud Medical City, Riyadh, Kingdom of Saudi Arabia
Omar M. Hussein Department of Medical Affairs, Sanofi-Genzyme, Saudi Arabia
Mohammed Olfat Department of Pediatrics, Pediatric Rheumatology, Maternity and Children hospital, Madina, Saudi Arabia
Taghreed Shuaib Clinical Biochemical Geneticist, King Abdulaziz University, University Hospital, Jeddah, Saudi Arabia
Yahia Aktham Department of Medical Affairs, Sanofi-Genzyme, Saudi Arabia

DOI:

https://doi.org/10.3889/oamjms.2020.5167

Keywords:

MPS, Consensus, Saudi Arabia

Abstract

Mucopolysaccharidosis (MPS) is a group of rare disorders that are characterized by intracellular accumulation of glycosaminoglycans with subsequent cellular and organ dysfunction. In the Middle East, especially Saudi Arabia, higher prevalence of MPS type I was observed compared to reported rates from European countries and the United States (U.S). The present work was developed as a part of the Saudi MPS Group’s efforts to address the current situation of MPS type I in Saudi Arabia and to reach a national consensus in the management of MPS type I. The first “Management of MPS Type I Advisory Board” meeting was held in Riyadh on May 2, 2019, to reflect the expert opinions regarding different aspects of MPS type I and develop this manuscript; eight consultants from different specialties (medical genetics, pediatric rheumatology, and pediatric endocrinology), representing six Saudi institutions, in addition to a global expert in genetics participated in the meeting.

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