Mucopolysaccharidosis type IVA (Morquio A syndrome)
Autoszomális recesszív
Deficiency of N-acetylgalactosamine-6-sulfatase causes short stature, spinal and chest deformity, joint laxity, neck instability, corneal clouding and heart valve disease.
Mit változtat a diagnózis
Enzyme replacement therapy (elosulfase alfa) is available, and neck instability needs monitoring, especially before anaesthesia.
Vizsgált gének
Más néven
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
