Patient's question:
Liver and spleen enlargement. Poor hearing. Deformed limbs and joints. Sunken bridge of nose. Sparse teeth. Enlarged abdomen. Low intelligence.Doctor's answer:
Mucopolysaccharide metabolism disorders are caused by mutations in the hydrolases that degrade mucopolysaccharides within lysosomes of human cells, leading to their loss of activity. As a result, mucopolysaccharides cannot be degraded and metabolized, ultimately accumulating in the body, causing disease. High-risk families with affected individuals need to undergo prenatal diagnosis to prevent the recurrence of this disease within the same family. Newborn screening methods for this disease are currently under research. It is expected that with the maturation of technology, experience, and the refinement of ethics, this disease will also be diagnosed prenatally through newborn screening methods, as well as treated before the onset of obvious symptoms.