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Home > West Medicine > Internal Medicine > Rheumatology
百科

Mannosidosis

风湿免疫科

Common symptoms

巨舌、耳聋、驼背、胸骨隆凸、门齿间距增宽、反复感染

The pathology of disease

Mannosidosis is lysosomal alpha-mannosidase deficiency; developmental delay; coarse facies; hearing loss; children; AR; supportive; enzyme replacement selected; pediatric metabolic/genetics.

Symptoms

Developmental delay; coarse facies; hearing loss; child; AR; mannosidosis; supportive

Causes

MAN2B1/MANBA mutation; AR; mannosidosis; child.

Treatment

Supportive; enzyme replacement selected; pediatric metabolic/genetics; hearing

Dept

Pediatrics / metabolic / medical genetics / pediatric ENT.

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

Family room

风湿免疫科Overview of the Western Medical Room