Maroteaux–Lamy syndrome
Maroteaux–Lamy syndrome (pronounced: ma-roh-toh-LAH-mee sin-drohm), also known as Mucopolysaccharidosis type VI (MPS VI) or Arylsulfatase B deficiency, is a rare lysosomal storage disease characterized by a deficiency of the enzyme arylsulfatase B. This syndrome is named after the French physicians, Pierre Maroteaux and Maurice Lamy, who first described it in 1963.
Etymology
The term "Maroteaux–Lamy syndrome" is derived from the names of the French physicians Pierre Maroteaux and Maurice Lamy, who first described this condition. The term "Mucopolysaccharidosis" comes from the type of sugar molecule (mucopolysaccharides) that builds up in the body's cells due to the lack of the enzyme arylsulfatase B.
Symptoms
The symptoms of Maroteaux–Lamy syndrome typically become apparent in early childhood and may include dwarfism, corneal clouding, hearing loss, heart disease, respiratory problems, and an enlarged liver and spleen. The severity of symptoms can vary widely among affected individuals.
Diagnosis
Diagnosis of Maroteaux–Lamy syndrome is based on a clinical examination, identification of characteristic symptoms, a detailed patient history, and specialized laboratory tests that can measure the levels of the enzyme arylsulfatase B in the body.
Treatment
There is currently no cure for Maroteaux–Lamy syndrome. Treatment is symptomatic and supportive, and may include physical therapy, surgery to manage skeletal abnormalities, and enzyme replacement therapy to slow the progression of the disease.
Prognosis
The prognosis for individuals with Maroteaux–Lamy syndrome varies depending on the severity of symptoms. With early diagnosis and appropriate management, many individuals with this condition can lead a normal life.
See also
External links
- Medical encyclopedia article on Maroteaux–Lamy syndrome
- Wikipedia's article - Maroteaux–Lamy syndrome
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