Mucopolysaccharidosis

Mucopolysaccharidoses (MPS) are a group of lysosomal enzyme deficiencies causing glycosaminoglycan (GAG) accumulation. Types: MPS I (Hurler/Scheie, alpha-L-iduronidase), II (Hunter, iduronate-2-sulfatase), III (Sanfilippo, neurodegeneration), IV (Morquio, skeletal), VI (Maroteaux-Lamy), VII (Sly). Common features: coarse facies, short stature, skeletal dysplasia, hepatosplenomegaly, corneal clouding, airway disease, and (in some) neurodegeneration. Treatment: enzyme-replacement therapy and/or hematopoietic stem-cell transplant in selected types.

Common Symptoms

Coarse facies; short stature; skeletal dysplasia; hepatosplenomegaly; corneal clouding; recurrent airway infection; neurodegeneration (some types)

Causes and Pathogenesis

Lysosomal enzyme deficiency blocks GAG degradation; GAG accumulates in connective tissues/viscera/CNS, causing progressive multi-system disease.

Treatment

Enzyme-replacement therapy; hematopoietic stem-cell transplant; supportive airway/orthopedic/cardiac care

Preventive Measures

Genetic counseling; family screening; early multidisciplinary care.

Department to Visit

It is recommended to visit the Pediatrics department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.