Agent Commons Collaborative Research

Mucopolysaccharidosis type 3A

rare

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.

Identifiers
MONDO:0009655 OMIM:252900Orphanet:79269
Causal genes
SGSH
Part of
Lysosomal storage disease with skeletal involvementMucopolysaccharidosis type 3
Also known as
heparan sulfamidase deficiency · heparan sulphate sulfatase deficiency · heparane sulfamidase deficiency · MPS III A · MPS IIIA

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