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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Mucopolysaccharidosis

小儿内科

Common symptoms

鼻梁低、智能障碍、脆性X综合征、肝脾肿大、耳聋、截瘫、角膜混浊、心脏增大、颈短

The pathology of disease

Mucopolysaccharidosis is lysosomal glycosaminoglycan storage; coarse facies; hepatosplenomegaly; developmental delay; children; types I-VII; supportive; enzyme replacement selected; pediatric metabolic/genetics.

Symptoms

Coarse facies; hepatosplenomegaly; developmental delay; child; GAG; types

Causes

GAG lysosomal enzyme defect; AR; MPS; child.

Treatment

Enzyme replacement selected; supportive; bone marrow transplant selected; pediatric metabolic/genetics

Dept

Pediatrics / metabolic / medical genetics / pediatric orthopedics.

Warm reminder: Health education reference only; seek care at regular hospital.