Mucopolysaccharidosis type VI, or Maroteaux–Lamy syndrome, is a rare, autosomal recessive genetic disease, mainly affecting the pediatric age group. The disease is due to pathogenic variants of the ARSB gene, coding for the lysosomal hydrolase N-acetylgalactosamine 4-sulfatase (arylsulfatase B, ASB).

People with MPS VI are missing or are low in an enzyme called N-acetylgalactosamine-4-sulfatase, which is essential in breaking down mucopolysaccharides dermatan sulphate. When dermatan sulphate is not completely broken down it remains stored in the body and the symptoms of MPS VI occur.

Maroteaux–Lamy syndrome, or mucopolysaccharidosis Type VI (MPS-VI), is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB). [3] ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (GAGs, also known as mucopolysaccharides).

Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge, become inflamed or scarred, and eventually waste away (atrophy). Explore symptoms, inheritance, genetics of …

Mar 3, 2022 · Mucopolysaccharidosis (MPS) VI, also known as Maroteaux- Lamy syndrome, is a momentous, progressive and heterogeneous disease with severe pathologies affecting multiple organs which includes 2-18% of all mucopolysaccharidoses [1-3]. It was first described in 1963 by Pierre Maroteaux and Maurice Lamy [4].

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.

The severe form of MPS VI, or rapidly progressive, is characterized by the onset of symptoms between 2 and 3 years of age, restricted joint mobility in infancy, delayed puberty, cervical spine compression, and respiratory failure.

Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B).

Mucopolysaccharidosis VI (MPS VI; pronounced “mew·ko·pol·ee·sak·ah·ri·doh·sis six”) is a very rare genetic disorder characterized by a large head, distinctive “coarse” features, and a large tongue.

Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism.