Mucopolysaccharidosis type 4A
ICD-10 Code
E76.210
Mucopolysaccharidosis type 4A
Definition
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.
Also known as galactosamine-6-sulfatase deficiency, GALNS deficiency, Morquio disease type A, Morquio syndrome A, MPS IV A, MPS4A, MPSIVA, mucopolysaccharidosis type 4A, mucopolysaccharidosis type IVA, N-acetylgalactosamine-6-sulfate sulfatase deficiency — per MONDO