Barbara Burton, MD of Lurie Children’s Hospital of Chicago explains Morquio syndrome type A, a rare lysosomal storage disorder.

Morquio syndrome type A, or mucopolysaccharidosis (MPS) IVA, is due to a mutation in the GALNS gene that leads to a deficiency in the GALNS enzyme. This results in an accumulation of keratan sulfate in cells and tissue that leads to numerous problems, most notably skeletal deformities.

Normally, persons with Morquio syndrome type A appear healthy at birth but as they reach the age of 2 or 3 years, characteristic symptoms will be begin to appear, including course facial features (enlarged head, broad mouth, prominent cheekbones, small nose, widely spaced teeth, and widely separated eyes). As they grow, skeletal problems will become very apparent.

Managing persons is largely symptomatic and can involve multiple specialties. There is no curative treatment for this condition but elosulfase alfa, an FDA-approved enzyme replacement therapy, can delay progression of the disease.

For more information about this rare disease, visit our MPS education page.

 

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