Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)
Autoszomális recesszív
Deficiency of arylsulfatase B causes dermatan sulfate storage, leading to short stature, joint stiffness, coarse features, corneal clouding, heart valve disease and airway narrowing, with rapidly and slowly progressing forms.
Mit változtat a diagnózis
Enzyme replacement therapy (galsulfase) is available.
Vizsgált gének
Más néven
ARSB deficiency; arylsulfatase B deficiency; ASB deficiency; Maroteaux Lamy Syndrome; Maroteaux-Lamy disease; MPS VI; MPS6; MPSVI; Mucopoly-saccharidosis type VI; mucopolysaccharidosis type VI; mucopolysaccharidosis type VI (Maroteaux-Lamy); N-acetylgalactosamine 4-sulfatase deficiency
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- mucopolysaccharidosis type 6, rapidly progressing
- mucopolysaccharidosis type 6, slowly progressing
