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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- The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Mucopolysaccharidosis type IVA. Click on the link to view a sample search on this topic.