Mucopolysaccharidosis type IVA (Morquio A syndrome)
Autosomal recessive
Deficiency of N-acetylgalactosamine-6-sulfatase causes short stature, spinal and chest deformity, joint laxity, neck instability, corneal clouding and heart valve disease.
What a diagnosis changes
Enzyme replacement therapy (elosulfase alfa) is available, and neck instability needs monitoring, especially before anaesthesia.
Genes analysed
Also known as
galactosamine-6-sulfatase deficiency; GALNS deficiency; Morquio A disease; Morquio disease type A; Morquio syndrome A; MPS IV A; MPS IVA; MPS4A; MPSIVA; mucopolysaccharidosis type IVA; N-acetylgalactosamine-6-sulfate sulfatase deficiency
