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

Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report

“…Although the current observation lacked electron microscopic observations of the GAG membrane deposition, radiographic findings, along with IDUA deficiency, proved beyond a doubt that MPS I was the underlying disease in the patient. Another study reported a similar neonatal manifestation as described in this case, except the patient was diagnosed with MPS II [ 9 ]. However, it should be noted that MPS II is diagnosed histologically with pulmonary interstitial glycogenosis correlating with classical MPS II clinical manifestations [ 9 , 10 ].…”

“…However, MPS I with interstitial lung disease as a primary presenting manifestation has not been extensively reported on [ 13 , 15 ]. In the current case, MPS I was diagnosed with the neonate showing interstitial lung disease, which is an uncommon feature of MPS I [ 2 , 9 , 10 , 11 , 22 , 23 , 24 ]. The official clinical guidelines of the American Thoracic Society (ATS) for evaluating childhood interstitial and diffuse lung disease (chILD) state that specialized consultations should be considered after excluding the common causes of diffuse lung diseases [ 25 ].…”

“…The global prevalence of MPS I is estimated to be 1 in 100,000 births [ 7 , 8 ]. Compared to the published rates from Europe and the United States, the prevalence of MPS I has been found to be greater in the Middle East, particularly Saudi Arabia [ 9 ]. Based on a retrospective analysis of data from different centers in Saudi Arabia, the estimated incidence of MPS I is between 2 and 4 cases per 100,000 live births [ 9 , 10 , 11 ].…”

“…Compared to the published rates from Europe and the United States, the prevalence of MPS I has been found to be greater in the Middle East, particularly Saudi Arabia [ 9 ]. Based on a retrospective analysis of data from different centers in Saudi Arabia, the estimated incidence of MPS I is between 2 and 4 cases per 100,000 live births [ 9 , 10 , 11 ]. However, nationwide incidence studies are recommended for real estimates of the incidence of MPS I.…”

“…These classifications are based on the age of onset and the rapidity of disease progression. Although patients with MPS I appear normal at birth, due to its progressive nature, the signs and symptoms usually become apparent during early childhood [ 2 , 4 , 5 , 6 , 7 , 8 , 9 ].…”