Mucopolysaccharidosis type VI, also Maroteaux-Lamy syndrome (MPS VI), is a congenital metabolic disorder of mucopolysaccharides and is one of the lysosomal storage diseases.
The cause of the syndrome is a genetic mutation of the enzyme arylsulfatase B (ASB, N-acetylgalactosamine-4-sulfatase). Complete absence or deficiency of this enzyme is due to incorporation of dermatin sulfate.
In the course of the disease, this storage in healthy cells and organs is affected, which increasingly restricts their function. The syndrome is caused by a new mutation or through autosomal recessive inheritance.
The disease manifests itself mainly in the external appearance. Severe cases are caused by an enlarged head with a relatively short neck, a widespread nose, prominent cheekbones, enlarged lips, an enlarged tongue and dwarfism.
In addition, a number of other typical symptoms may occur in the course of the disease. These include corneal clouding, respiratory tract infections, deafness and sleep apnea. Hernias, hepatosplenomegaly and heart valve thickening and consequent cardiomyopathies can also occur. In mild cases, often only a few symptoms occur.
Depending on the severity of the disease, the first symptoms may appear in infancy or late in adulthood. The severity of the disease increases with age.