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Home > West Medicine > Internal Medicine > Endocrinology
百科

Mucopolysaccharidosis

内分泌科

Common symptoms

肝脾肿大、驼背、角膜混浊、代超、颈短、惊厥

The pathology of disease

Mucopolysaccharidosis is lysosomal storage disease; glycosaminoglycan accumulation; skeletal dysplasia/mental retardation/hernia.

Common Symptoms

Coarse facies; skeletal dysplasia; hernia; corneal clouding; mental retardation; recurrent URI

Causes

Lysosomal enzyme deficiency; autosomal recessive/X-linked.

Treatment

Enzyme replacement; bone marrow transplant; supportive

Prevention

Genetic counseling; prenatal diagnosis.

Recommended Department

It is recommended to visit the pediatrics department; before the visit you may first book an appointment and connect with experts through this platform.

Warm reminder: The above information is provided for health education reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek care at a regular hospital in time.