TAIPEI (TVBS News) — In observance of International MPS Awareness Day on May 15, medical experts highlight the critical importance of early detection and intervention in treating Mucopolysaccharidoses (MPS), a rare inherited metabolic disorder. Doctors emphasize that newborn screening can identify MPS early, allowing timely treatment.
Understanding MPS
MPS is a recessive genetic disease with an estimated prevalence rate of 1 in 50,000, classified as a rare disease. Taiwan has recorded 195 cases, with 114 individuals living with the condition.
Dr. Lin Shuan-pei (林炫沛), a pediatric genetics authority, explained that MPS patients lack specific enzymes needed to break down glycosaminoglycans, leading to the accumulation of these substances and subsequent organ damage.
Early Signs and Intervention
Dr. Lin further noted that children with MPS do not exhibit noticeable symptoms at birth. However, as glycosaminoglycans accumulate, symptoms gradually emerge.
He advises parents to be vigilant for signs of MPS, which can be remembered with the mnemonic "BECAREful." B stands for bone and joint, E for eye, C for cardiac, A for abdominal, R for respiratory, and the last E for ENT.
Suppose a child exhibits two or more of these symptoms, which include poor bone development, corneal clouding, cardiac valve abnormalities or CNS changes, enlarged liver or spleen, respiratory distress, and ENT issues such as hearing impairment or recurrent otitis media. In that case, it is unusual and warrants further examination.
As the global community marks International MPS Awareness Day, the focus turns to the importance of newborn screening and the need for increased awareness among parents and healthcare providers.
Early detection and intervention are vital to managing MPS, offering hope for affected families, and improving the quality of life for those diagnosed with this challenging condition.