Question
Families are seeking hospitals for treating their children’s mucopolysaccharidosis, with symptoms including liver and spleen enlargement, hearing impairment, joint deformities in the limbs, a sunken nasal bridge, sparse teeth, abdominal swelling, and low intelligence.
Answer
Mucopolysaccharidosis is caused by a mutation in the lysosomal hydrolytic enzymes responsible for degrading mucopolysaccharides, leading to their loss of activity and the inability to degrade and metabolize these substances, resulting in their accumulation in the body. For families with a family history of the disease, it is recommended to undergo prenatal diagnosis to prevent the birth of another patient with the disease within the family. Currently, there is research into newborn screening methods for this disease. With the maturation of technology and the improvement of ethics, it is expected that newborn screening will be able to diagnose and treat the disease before symptoms appear.