Mucopolysaccharidosis type IVA (Morquio A syndrome)
Autozomálně recesivní
Deficiency of N-acetylgalactosamine-6-sulfatase causes short stature, spinal and chest deformity, joint laxity, neck instability, corneal clouding and heart valve disease.
Co se diagnózou změní
Enzyme replacement therapy (elosulfase alfa) is available, and neck instability needs monitoring, especially before anaesthesia.
Analyzované geny
Známé také jako
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
