Mucopolysaccharidosis type 4A
From BugSigDB
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.
- Aliases
- Galactosamine-6-sulfatase deficiency
- galactosamine-6-sulfatase deficiency
- GALNS deficiency
- Morquio A disease
- Morquio disease type A
- Morquio syndrome A
- MPS 4A
- MPS IV A
- MPS IVA
- MPS4A
- MPSIVA
- mucopolysaccharidosis type 4A
- Mucopolysaccharidosis type IVA
- mucopolysaccharidosis type IVA
- mucopolysaccharidosis, type 4A
- mucopolysaccharidosis, type IVA
- N-acetylgalactosamine-6-sulfate sulfatase deficiency
