Mucopolysaccharidosis type 6

Orpha code: 583OMIM code: 253200

Definition

Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.

Disease data
Classification

Disease

Synonyms
ARSB deficiency
Choroba Maroteaux i Lamy'ego
MPS6
MPSVI
Mukopolisacharydoza typu VI
Niedobór 4-sulfatazy N-acetylgalaktozaminy
Niedobór ARSB
Niedobór arylosulfatazy B
Niedobór ASB
ASB deficiency
Arylsulfatase B deficiency
MPS6
MPSVI
Maroteaux-Lamy disease
Mucopolysaccharidosis type VI
N-acetylgalactosamine 4-sulfatase deficiency
ORPHA code
583
OMIM code
253200
ICD10 code
E76.2
ICD11 code
5C56.33

No additional description.

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