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Diseases

Genetic and Rare Diseases Information Center (GARD)

Multiple sulfatase deficiency


Other Names for this Disease
  • MSD
  • Juvenile sulfatidosis
  • Mucosulfatidosis
  • Sulfatidosis juvenile, Austin type
Related Diseases
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Overview

Multiple sulfatase deficiency is a lysosomal storage disorder that mainly affects the brain, skin, and skeleton.[1][2] 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.[1] Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene. It is inherited in an autosomal recessive pattern.[1][2] There is no cure for multiple sulfatase deficiency. Treatment includes physical therapy and supportive services.[2]  
Last updated: 2/24/2016

References

  1. Multiple sulfatase deficiency. Genetics Home Reference (GHR). July 2014; http://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency.
  2. 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.
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Basic Information

In Depth Information

  • 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.
Other Names for this Disease
  • MSD
  • Juvenile sulfatidosis
  • Mucosulfatidosis
  • Sulfatidosis juvenile, Austin type
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.