Maroteaux–Lamy syndrome, or Mucopolysaccharidosis Type VI (MPS-VI), is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB). ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (GAGs, also known as mucopolysaccharides). In particular, ARSB breaks down dermatan sulfate and chondroitin sulfate. Because people with MPS-VI lack the ability to break down these GAGs, these chemicals build up in the lysosomes of cells. MPS-VI is therefore a type of lysosomal storage disease. Signs and symptoms
Unlike other MPS diseases, children with Maroteaux–Lamy syndrome usually have normal intelligence. They share many of the physical symptoms found in Hurler syndrome. Maroteaux–Lamy syndrome has a variable spectrum of severe symptoms. Neurological complications include clouded corneas, deafness, thickening of the dura (the membrane that surrounds and protects the brain and spinal cord), and pain caused by compressed or traumatized nerves and nerve roots.Signs are revealed early in the affected childs life, with one of the first symptoms often being a significantly prolonged age of learning how to walk. Growth begins normally, but children usually stop growing by age 8. By age 10, children often develop a shortened trunk, crouched stance, and restricted joint movement. In more severe cases, children also develop a protruding abdomen and forward-curving spine. Skeletal changes, particularly in the pelvis, are progressive and limit movement. Many children also have umbilical hernia or inguinal hernias. Nearly all children have some form of heart disease, usually involving the heart valves. Genetics
This disorder is inherited in an autosomal recessive pattern.
In different populations worldwide, MPS-VI made up between 2 and 18.5% of all MPS disorders. History
It is named after Pierre Maroteaux (1926–2019) and his mentor Maurice Emil Joseph Lamy (1895–1975), both French physicians. Society and culture
Keenan Cahill is a YouTuber with Maroteaux–Lamy syndrome.Isabel Bueso, a Guatemalan woman with Maroteaux–Lamy syndrome who has been receiving treatment at UCSF Benioff Childrens Hospital, was at risk of deportation from the United States after the Trump Administration ended the deferred action program in August 2019. In December 2019, she was granted another deferral of two years. See also
Hurler syndrome (MPS I)
Hunter syndrome (MPS II)
Sanfilippo syndrome (MPS III)
Morquio syndrome (MPS IV)

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