Multiple sulfatase deficiency
Other Names for this Disease
- Juvenile sulfatidosis
- Sulfatidosis juvenile, Austin type
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 The signs and symptoms of this condition vary widely, prompting researchers to divide it into three types: neonatal, late-infantile, and juvenile. The neonatal type is the most severe form, with symptoms developing soon after birth. The late-infantile type is the most common form and usually presents as progressive loss of mental abilities and movement after a period of normal development. The juvenile type is rare, with a slow regression of psychomotor development in mid to late childhood. Life expectancy is shortened in all types. Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene. It is inherited in an autosomal recessive pattern. There is no cure for multiple sulfatase deficiency. Treatment includes physical therapy and supportive services.Multiple sulfatase deficiency is a lysosomal storage disorder that mainly affects the brain, skin, and skeleton.
Last updated: 2/24/2016
- Multiple sulfatase deficiency. Genetics Home Reference (GHR). July 2014; http://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency.
- Guide to Understanding Multiple Sulfatase Deficiency (MSD). Society for Mucopolysaccharide Diseases (MPS Society). http://www.mpssociety.org.uk/media/filer_public/76/fa/76faa371-d1a1-453b-b2c1-7e49b6216ffb/guide-msd-2013.pdf. Accessed 2/24/2016.
- The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
- Genetics Home Reference (GHR) contains information on Multiple sulfatase deficiency. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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 Multiple sulfatase deficiency. Click on the link to view a sample search on this topic.