Mucopolysaccharidosis type I
Mucopolysaccharidoses (MPS) are a group of hereditary mucopolysaccharide metabolism disorders caused by lysosomal abnormalities. They are congenital rheumatic diseases caused by the accumulation of incompletely decomposed glucosamine due to enzyme activity defects. Their common clinical features include varying degrees of epiphyseal changes, mental retardation, visceral involvement, and corneal opacity; their biochemical characteristics are defects in the decomposition and metabolism of acidic mucopolysaccharides, resulting in excessive accumulation of mucopolysaccharides in cells and excessive excretion of mucopolysaccharides in urine.
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Site of disease:
Bone whole body eye -
Infectious :
Not contagious -
Frequent population:
Children aged 1-2 years -
Related symptoms:
Mental retardation joint deformity flat nose bridge gum hypertrophy thick lips and big tongue -
Concurrent disease:
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