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Condition report · Metabolic

MPS VI (Maroteaux-Lamy Syndrome)

An inherited lysosomal storage disease caused by ARSB variants, with skeletal, joint, eye, heart and airway involvement and usually normal intelligence.

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The condition we analyse

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)

Autosomal recessive

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.

What a diagnosis changes

Enzyme replacement therapy (galsulfase) is available.

Genes analysed

Also known as

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

Includes 2 related subtypes ↓
  • mucopolysaccharidosis type 6, rapidly progressing
  • mucopolysaccharidosis type 6, slowly progressing
MONDO:0009661OMIM 253200Orphanet 583MedGen 44514

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