What is the definition of Mucopolysaccharidosis Type 4A?

Mucopolysaccharidosis type IVA (MPS IVA, also called Morquio syndrome, type A) is a metabolic condition that primarily affects the skeleton. The severity, age of onset, and associated symptoms vary significantly from person to person and range from a severe and rapidly progressive, early-onset form to a slowly progressive, later-onset form. The severe form is usually diagnosed between ages 1 and 3, while the milder form may not become evident until late childhood or adolescence. Signs and symptoms include various skeletal abnormalities such as short stature, knock knees, pectus carinatum, and malformations of the spine, hips and wrists. Affected people may also experience involvement of other organ systems such as respiratory problems, valvular heart disease, hearing impairment, corneal clouding, dental abnormalities, hepatomegaly, and spinal cord compression. MPS IVA is caused by changes (mutations) in the GALNS gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

What are the alternative names for Mucopolysaccharidosis Type 4A?

  • MPS 4A
  • Morquio A disease
  • Galactosamine-6-sulfatase deficiency
  • GALNS deficiency
  • Morquio disease type A
  • MPS4A
  • Mucopolysaccharidosis type 4A
  • N-acetylgalactosamine-6-sulfate sulfatase deficiency
  • Morquio syndrome A
  • Condition: Atlantoaxial Instability in Morquio Syndrome
  • Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • Treatment Used: Free-Hand C1-C2 Fusion
  • Number of Patients: 1
  • Published —
The study researched the use of free-hand C1-C2 fusion for patients with atlantoaxial instability in Morquio syndrome.
Clinical Trial
  • Status: Recruiting
  • Phase: Phase 2
  • Intervention Type: Drug
  • Participants: 30
  • Start Date: November 7, 2018
A Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI
Clinical Trial
  • Status: Active, not recruiting
  • Participants: 1000
  • Start Date: August 20, 2018