mucopolysaccharidosis type 4A
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.
MONDO:0018938
mucopolysaccharidosis type 4
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
GALNS deficiency
exact
MPS IV A
exact
MPS IVA
related
MPS4A
exact
MPSIVA
exact
Morquio A disease
broad
Morquio disease type A
exact
Morquio syndrome A
exact
N-acetylgalactosamine-6-sulfate sulfatase deficiency
exact
galactosamine-6-sulfatase deficiency
exact
mucopolysaccharidosis type 4A
exact
mucopolysaccharidosis type IVA
exact
mucopolysaccharidosis, type IVA
related