Mucopolysaccharidosis

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Mucopolysaccharidosis

Mucopolysaccharidosis (pronunciation: myoo-ko-poly-sak-uh-ri-doh-sis) is a group of metabolic disorders caused by the absence or malfunctioning of certain enzymes needed to break down molecules called glycosaminoglycans.

Etymology

The term "Mucopolysaccharidosis" is derived from the type of sugar molecule (mucopolysaccharides, now called glycosaminoglycans) that accumulates in the body tissues of individuals with this condition.

Types

There are several types of Mucopolysaccharidosis, including:

Each type is caused by a deficiency of a specific enzyme.

Symptoms

Symptoms of Mucopolysaccharidosis can vary widely in severity and may include:

  • Abnormal bone size or shape and other skeletal irregularities
  • Reduced life expectancy
  • Mental retardation (in some types)
  • Hearing loss
  • Heart and lung problems

Diagnosis

Diagnosis of Mucopolysaccharidosis is typically made through clinical evaluation, detailed patient history, and a variety of specialized tests, including genetic testing and enzyme analysis.

Treatment

Treatment for Mucopolysaccharidosis is focused on managing the symptoms and may include physical therapy, surgery, and, in some cases, enzyme replacement therapy.

See Also

External links

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