Multiple sulfatase deficiency

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Multiple sulfatase deficiency
Classification and external resources
OMIM 272200
MeSH D052517

Multiple sulfatase deficiency or Austin's disease is a human genetic disorder caused by a deficiency in multiple sulfatase enzymes. It is similar to mucopolysaccharidosis.[1] This disease is fatal, with the early symptoms being nerve damage and severe mental retardation.[2] The first symptoms appear soon after birth, with affected children having unusual facial features, developmental delays and an enlarged liver (hepatomegaly).[3]

[edit] References

  1. ^ Soong BW, Casamassima AC, Fink JK, Constantopoulos G, Horwitz AL (1988). "Multiple sulfatase deficiency". Neurology 38 (8): 1273-5. PMID 2899861. 
  2. ^ Farooqui AA, Horrocks LA (1984). "Biochemical aspects of globoid and metachromatic leukodystrophies". Neurochem Pathol 2 (3): 189-218. PMID 6152665. 
  3. ^ Burk RD, Valle D, Thomas GH, et al (1984). "Early manifestations of multiple sulfatase deficiency". J. Pediatr. 104 (4): 574-8. PMID 6142938. 

[edit] External links

Multiple sulfatase deficiency OMIM