Morquio mucopolysaccharidoses digital illustration

Morquio mucopolysaccharidoses Save

ICD-10 code: E76.21

Chapter: Endocrine, nutritional and metabolic diseases

Morquio mucopolysaccharidoses: What you need to know

Morquio mucopolysaccharidoses, also known as Morquio syndrome, is a rare genetic disorder that affects the body's ability to break down certain sugars. This condition is caused by a deficiency in one of two enzymes, which leads to the buildup of mucopolysaccharides in the body.

There are two types of Morquio mucopolysaccharidoses: type A and type B. Type A is caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfate sulfatase, while type B is caused by a deficiency in the enzyme beta-galactosidase. Both types of Morquio mucopolysaccharidoses are inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the defective gene, one from each parent, in order to develop the condition.

People with Morquio mucopolysaccharidoses may experience a range of symptoms, including short stature, skeletal abnormalities, joint pain and stiffness, respiratory problems, and heart disease. These symptoms can vary widely in severity, and the age of onset can also vary.

  1. Short stature: People with Morquio mucopolysaccharidoses typically have a short stature, with an average adult height of around 3 to 4 feet.
  2. Skeletal abnormalities: Skeletal abnormalities are common in people with Morquio mucopolysaccharidoses, and can include scoliosis, kyphosis, and pectus carinatum (a protrusion of the chest).
  3. Joint pain and stiffness: Joint pain and stiffness are common in people with Morquio mucopolysaccharidoses, and can affect mobility and quality of life.
  4. Respiratory problems: Respiratory problems, including obstructive sleep apnea and restrictive lung disease, are common in people with Morquio mucopolysaccharidoses.
  5. Heart disease: People with Morquio mucopolysaccharidoses may develop heart disease, including valve problems and thickening of the heart muscle.

There is currently no cure for Morquio mucopolysaccharidoses, and treatment is aimed at managing symptoms and improving quality of life. Treatment options may include enzyme replacement therapy, surgery to correct skeletal abnormalities, and respiratory support.

If you or a loved one has been diagnosed with Morquio mucopolysaccharidoses, it is important to work closely with a healthcare team to manage symptoms and develop