Abstract
Background: For the last few years, the diagnosis of lysosomal storage disorders (LSDs) has increased in Saudi Arabia and the Arabian Gulf region. Mucopolysaccharidosis (MPS) is one of the LSDs that showed high rates of consanguinity in Arabian countries. Therefore, an online survey was designed to measure the clinical knowledge of Saudi pediatricians about MPS I.
Methods: A multinational, cross-sectional study was conducted to collect data through an online survey administered to pediatricians and other physicians mostly involved in MPS-I management. The survey was formed of two long clinical cases scenarios, seven close-ended questions related to general knowledge about MPS-I disease, and five close-ended questions related to MPS-I patient’s journey.
Results: Study surveys were filled by 58 physicians. High rates of MPS diagnosis were noted among physicians’ responses. Other than musculoskeletal symptoms, physicians reported the following symptoms; hepato-splenomegaly, corneal clouding, skeletal abnormalities, coarse facies, hernias, and mental retardation. The multidisciplinary team was the most selected option when considering patients’ referrals. Regarding MPS complications, musculoskeletal abnormalities including irreversible skeletal deformities, growth retardation, and mobility loss were the most MPS late complications.
Conclusion: The current results give key insights into the current status of clinical practice in countries of the Arabian Gulf region. Physicians of Kingdom of Saudi Arabia (KSA) and other countries of the Arabian Gulf region have solid knowledge and long experience in the management of MPS I patients.

Key words: Mucopolysaccharidosis, MPS, lysosomal storage disorders, Saudi Arabia, gulf.