Mucopolysaccharidosis (MPS) is a constellation of disorders characterized by the accumulation of mucopolysaccharides in tissues and organs. This accumulation results in the deterioration and degeneration of multiple organs. This paper describes the general distribution of types of MPS in patients, their clinical characteristics and genotypes, the development of animal studies and preclinical studies, enzyme replacement therapy in South Korea, and the development of idursulfase beta and clinical trials on idursulfase beta in South Korea. In addition, this paper discusses academic collaboration among specialists in MPS care in the Asia-Pacific region, which includes Japan, Taiwan, Malaysia, and South Korea, through an organization called the Asia-Pacific MPS Network (APMN). The Asia-Pacific MPS Registry, an electronic remote data entry system, has been developed by key doctors in the APMN. Rare diseases require international cooperation and collaboration to elucidate their mechanisms and carry out clinical trials; therefore, an organization such as the APMN is required. Furthermore, international collaboration among Asian countries and countries around the world will be of utmost importance in the future.
Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient diagnosis is imperative to facilitate prompt treatment and prevention of clinical complications.
Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome) is caused by deficient activity of the enzyme, N-acetylgalactosamine-4-sulfatase, resulting in impaired degradation of the glycosaminoglycan dermatan sulfate. Patients experience a range of manifestations including joint contractures, short stature, dysostosis multiplex, coarse facial features, decreased pulmonary function, cardiac abnormalities, corneal clouding and shortened life span. Recently, clinicians from institutions in the Asia-Pacific region met to discuss the occurrence and implications of delayed diagnosis and misdiagnosis of MPS VI in the patients they have managed. Eighteen patients (44% female) were diagnosed. The most common sign presented by the patients was bone deformities in 11 patients (65%). Delays to diagnosis occurred due to the lack of or distance to diagnostic facilities for four patients (31%), alternative diagnoses for two patients (15%), and misleading symptoms experienced by two patients (15%). Several patients experienced manifestations that were subtler than would be expected and were subsequently overlooked. Several cases highlighted the unique challenges associated with diagnosing MPS VI from the perspective of different specialties and provide insights into how these patients initially present, which may help to elucidate strategies to improve the diagnosis of MPS VI.