Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome)
Mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome (OMIM 253200) is a rare, autosomal recessive disorder of glycosaminoglycan (GAG) storage resulting from a deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (also known as arylsulfatase B, ASB, E.C.18.104.22.168). Affected individuals are unable to catabolise the GAG dermatan sulfate (DS, Figure 1) and this results in the intracellular accumulation of partially degraded GAG in the lysosomes of a wide variety of tissues. This accumulation, by an unknown method, causes a chronic progressive disorder involving multiple organs that can lead to death in early adult life. The disorder was first described by Maroteaux and colleagues in a 13-year-old child (Maroteaux et al., 1963) as a Hurler-type syndrome with normal intelligence and the excretion of dermatan sulfate (which they called chondroitin sulfate B) alone. Since this initial description many further cases have been described and a very wide clinical phenotype has been described ranging from a severe disorder presenting in the first year of life with marked skeletal and multisystem disease to a disorder presenting in adulthood with very mild symptoms.
KeywordsInfective Endocarditis Carpal Tunnel Syndrome Enzyme Replacement Therapy Dermatan Sulfate Craniocervical Junction
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