Mucopolysaccharidosis type 3A
Mucopolysaccharidosis type 3A
Definition
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.
Also known as heparan sulfamidase deficiency, MPS III A, MPS3A, MPSIIIA, mucopolysaccharidosis type 3A, mucopolysaccharidosis type IIIA, Sanfilippo A, Sanfilippo syndrome a, Sanfilippo syndrome type A — per MONDO