Table of Contents

Mucopolysaccharidosis Type IV (MPS IV) a.k.a. Morquio Syndrome

What is MPS IV (Morquio syndrome)?

Morquio syndrome is a rare inherited genetic disease that is in a group of diseases known as mucopolysaccharidosis (MPS) syndromes. Morquio syndrome is a storage deficiency within the cells of the body, and individuals with Morquio syndrome lack specific enzymes necessary for the breakdown of specific materials from cell function. This causes an inability for the cells to recycle these materials and a buildup occurs within the cells of muscles, bones and organs.

What are the symptoms of MPS IV (Morquio syndrome)?

Signs and symptoms of Morquio syndrome usually appear between the ages of 2 and 3. Symptoms include:

  • Heart disease, including large heart
  • Skeletal abnormalities such as short neck, prominent low face, abnormal spinal curvature, flat feet, short stature, and abnormally close knees
  • Hearing loss
  • Leg weakness

What causes MPS IV (Morquio syndrome)?

Morquio syndrome is caused by an inherited recessive trait.  This means that the syndrome must be passed on by both the mother and father.

Are there treatment options available for MPS IV (Morquio syndrome)?

Research is underway for treatment.  Currently, prenatal screening and enzyme replacement therapy are in use.  As of February 12, 2014, the medication Vimzim was approved by the FDA for the treatment of Morquio syndrome.

Where can I find more information on MPS IV (Morquio syndrome)?

Mucopolysaccharidosis Type IV (MPS IV) a.k.a. Morquio Syndrome Articles