Svensk definition
Mukopolysackaridos med onormalt höga urinhalter av kondroitinsulfat B, med dvärgväxt och dövhet som typiska kännetecken. Sjukdomen orsakas av en brist på N-acetylgalaktosamin-4-sulfatas (EC 3.1.6.12).
Mucopolysaccharidosis VI
Mukopolysackaridos VI
Engelsk definition
Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).
Svenska synonymer
Maroteaux-Lamys syndrom — MPS VI
Engelska synonymer
Arylsulfatase B Deficiency — Arylsulfatase B Deficiencies — Deficiencies, Arylsulfatase B — Deficiency, Arylsulfatase B — Maroteaux-Lamy Syndrome — Maroteaux Lamy Syndrome — Syndrome, Maroteaux-Lamy — Mucopolysaccharidosis Type VI — Type VI, Mucopolysaccharidosis — Mucopolysaccharidosis Type 6 — Type 6, Mucopolysaccharidosis — N-Acetylgalactosamine-4-Sulfatase Deficiency — Deficiencies, N-Acetylgalactosamine-4-Sulfatase — Deficiency, N-Acetylgalactosamine-4-Sulfatase — N-Acetylgalactosamine-4-Sulfatase Deficiencies — Polydystrophic Dwarfism — Dwarfism, Polydystrophic — ARSB Deficiency — ARSB Deficiencies — Deficiencies, ARSB — Deficiency, ARSB — Mucopolysaccharidosis 6