mucopolysaccharidosis type 3A
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.
MONDO:0018937
mucopolysaccharidosis type 3
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
MPS III A
exact
MPS IIIA
related
MPS3A
exact
MPSIIIA
exact
Sanfilippo A
exact
Sanfilippo syndrome a
exact
Sanfilippo syndrome type A
exact
heparan sulfamidase deficiency
exact
heparan sulphate sulfatase deficiency
related
heparane sulfamidase deficiency
related
mucopoly-saccharidosis type 3A
related
mucopolysaccharidosis type 3A
exact
mucopolysaccharidosis type IIIA
exact
mucopolysaccharidosis, type IIIA
related