Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)
Autozomálně recesivní
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.
Co se diagnózou změní
Enzyme replacement therapy (galsulfase) is available.
Analyzované geny
Známé také jako
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
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- mucopolysaccharidosis type 6, rapidly progressing
- mucopolysaccharidosis type 6, slowly progressing
