Mucopolysaccharidosis type IVA
Other Names for this Disease
- MPS IVA
- MPS 4A
- Morquio A disease
- Galactosamine-6-sulfatase deficiency
- GALNS deficiency
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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.Mucopolysaccharidosis type IVA (MPS IVA, also called Morquio syndrome, type A) is a
Last updated: 4/4/2016
- Debra S Regier, MD, PhD, Matthew Oetgen, MD, and Pranoot Tanpaiboon, MD. Mucopolysaccharidosis Type IVA. GeneReviews. March 2016; http://www.ncbi.nlm.nih.gov/books/NBK148668.
- Mucopolysaccharidosis type IV. Genetics Home Reference. July 2010; https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv.
- MUCOPOLYSACCHARIDOSIS, TYPE IVA. OMIM. September 2015; http://www.omim.org/entry/253000.
- Genetics Home Reference (GHR) contains information on Mucopolysaccharidosis type IVA. This website is maintained by the National Library of Medicine.
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