Barbara Burton, MD, Clinical and Biochemical Geneticist at Northwestern University and Ann & Robert H. Lurie Children’s Hospital of Chicago, discusses enzyme replacement therapy in patients with mucopolysaccharidosis (MPS) IVA.
Mucopolysaccharidoses (MPSs) are a group of rare genetic lysosomal storage diseases. The disease is caused by an absence or malfunctioning of enzymes required to break down carbohydrates into proteins and simpler molecules. Over time, these glycosaminoglycans collect in the cells, blood, brain and spinal cord, and connective tissues. The result is permanent, progressive cellular damage that affects the individual’s appearance, physical abilities, organ and system functioning, and, in most cases, mental development. Symptoms may be similar or vary among the different types of the disorder.
MPS IVA is caused by changes in the GALNS gene and primarily affects the skeletal system. Skeletal symptoms can lead to:
- Short stature
- Pectus carinatum
- Malformations of the spine, hips and wrists
There may also be involvement of other organ systems such as:
- Respiratory problems
- Valvular heart disease
- Hearing impairment
- Corneal clouding
- Dental abnormalities
- Hepatomegaly
- Spinal cord compression
Derived from the MARS registry, data presented at WORLDSymposium 2024looked at the effects of enzyme replacement therapies in patients with MPS IVA of different ages. The study observed the six-minute walk tests of treated versus untreated patients, and observed an increase in the distance walked, mobility, and endurance in patients receiving enzyme replacement therapy, regardless of age. This illustrates the significant benefit to enzyme replacement therapy amongst all age groups.
For more information on MPS and other rare lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/