Morquio syndrome
Morquio Syndrome
Morquio Syndrome (pronounced: mɔːrˈkwiːoʊ), also known as Mucopolysaccharidosis Type IV (MPS IV), is a rare metabolic disorder that primarily affects the skeleton. The condition is named after Dr. Luis Morquio, a Uruguayan physician who first described it in 1929.
Etymology
The term "Morquio" is derived from the name of Dr. Luis Morquio who first identified the syndrome. The term "Mucopolysaccharidosis" comes from the type of enzyme deficiency that causes the condition. "Mucopolysaccharides" are long chains of sugar molecules that are found throughout the body, often in mucus and in fluid around the joints.
Symptoms
Morquio Syndrome is characterized by a variety of symptoms, including dwarfism, abnormal development of bones and spine, corneal clouding, heart disease, and respiratory problems. The severity of these symptoms can vary widely among individuals with the syndrome.
Causes
Morquio Syndrome is caused by a deficiency in one of two enzymes, either N-acetylgalactosamine-6-sulfatase (GALNS) or beta-galactosidase (GLB1). This deficiency leads to an accumulation of certain complex carbohydrates, known as glycosaminoglycans (GAGs), in the body's cells. This accumulation causes the various symptoms associated with the syndrome.
Diagnosis
Diagnosis of Morquio Syndrome is typically made through a combination of clinical examination and laboratory testing, including genetic testing and enzyme analysis.
Treatment
While there is currently no cure for Morquio Syndrome, treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, surgery, and enzyme replacement therapy.
Related Terms
External links
- Medical encyclopedia article on Morquio syndrome
- Wikipedia's article - Morquio syndrome
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