Morquio

Morquio Syndrome is a rare inherited metabolic disorder that is typically diagnosed in childhood. It is characterized by the body's inability to break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). The syndrome is named after Dr. Luis Morquio, a Uruguayan physician who first described the condition in 1929.

Symptoms

The symptoms of Morquio Syndrome can vary greatly from person to person. However, common symptoms include abnormal development of bones including the spine, a bell-shaped chest with ribs flared out at the bottom, coarse facial features, heart valve problems, hypermobile joints, and short stature.

Causes

Morquio Syndrome is caused by a deficiency in the enzymes N-acetylgalactosamine-6-sulfatase (GALNS) or beta-galactosidase (GLB1), which are needed to break down glycosaminoglycans. The syndrome is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the faulty gene for a child to be affected.

Diagnosis

Diagnosis of Morquio Syndrome is typically made through a clinical examination, detailed patient history, and specialized tests that can detect abnormal levels of glycosaminoglycans. Genetic testing can confirm the diagnosis.

Treatment

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 to correct bone abnormalities, and enzyme replacement therapy.

See also

• Mucopolysaccharidosis
• Genetic disorder
• Metabolic disorder

References

Morquio Resources
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