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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
ARSB deficiency

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Description

Maroteaux-Lamy syndrome, also known as Mucopolysaccharidosis type VI (MPS VI), is a rare genetic disorder caused by a deficiency of the enzyme N-acetylgalactosamine-4-sulfatase. This enzyme is responsible for breaking down glycosaminoglycans, which are long chains of sugar molecules that are important for the structure and function of cells. Without this enzyme, glycosaminoglycans accumulate in the body, leading to a wide range of symptoms. These include skeletal abnormalities, joint stiffness, heart and lung problems, hearing loss, and vision problems. Other symptoms may include enlarged liver and spleen, enlarged tongue, and intellectual disability. Treatment for MPS VI is focused on managing symptoms and may include physical therapy, medications, and surgery.

Synonyms
  • arylsulfatase B deficiency
  • Maroteaux-Lamy disease
  • Maroteaux-Lamy syndrome
  • MPS6
  • MPS VI
  • N-acetylgalactosamine-4-sulfatase deficiency
  • polydystrophic dwarfism
  • Type VI mucopolysaccharidosis
Basic Lab Tests (measurements)

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
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