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Up to: Lysosomal storage disease with skeletal involvement · Mucopolysaccharidosis type 3
Mucopolysaccharidosis type 3C
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.
This condition has no sub-types.