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Maroteaux Lamy Syndrome

Abstract

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Synonyms of Maroteaux Lamy Syndrome

  • Arylsulfatase-B Deficiency
  • MPS Disorder VI
  • MPS VI
  • Mucopolysaccharidosis VI
  • Polydystrophic Dwarfism

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Maroteaux-Lamy syndrome is a rare genetic metabolic disorder that belongs to a group of disorders known the mucopolysaccharidoses. The disorder is also known as mucopolysaccharidosis (MPS) type VI. Maroteaux-Lamy syndrome occurs in three types: a classic severe type, an intermediate type, and a mild type. The syndrome is characterized by a deficiency in the enzyme arylsulfatase B (also called N- acetylgalactosamine-4-sulfatase), which leads to an excess of dermatan sulfate in the urine.

In general, growth retardation occurs from two to three years of age, with coarsening of facial features and abnormalities in the bones of hands and spine. Joint stiffness also occurs. The intellect is usually normal.

The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and fats. In individuals with MPS disorders, deficiency or malfunction of specific lysosomal enzymes leads to an abnormal accumulation of certain complex carbohydrates (mucopolysaccharides or glycosaminoglycans) in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth. These accumulations may also be found in the respiratory system, liver, spleen, central nervous system, blood, and bone marrow. This accumulation eventually causes progressive damage to cells, tissues, and various organ systems of the body. There are several different types and subtypes of mucopolysaccharidosis. These disorders, with one exception, are inherited as autosomal recessive traits.

Organizations related to Maroteaux Lamy Syndrome

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