Polyamines pp 437-445 | Cite as

Spermine Synthase Deficiency Resulting in X-Linked Intellectual Disability (Snyder–Robinson Syndrome)

  • Charles E. SchwartzEmail author
  • Xaiojing Wang
  • Roger E. Stevenson
  • Anthony E. Pegg
Part of the Methods in Molecular Biology book series (MIMB, volume 720)


Polyamines, small positively charged molecules, are vital for cell proliferation and differentiation. They are found ubiquitously in eukaryotic cells. Additionally, they interact with a wide range of other molecules and some membrane associated receptors. Polyamines, spermidine and spermine, are synthesized by two aminopropyltransferases, spermidine synthase and spermine synthase. Recently, mutations in the latter enzyme have been shown to be responsible for an X-linked intellectual disability condition known as Snyder–Robinson syndrome. Spermine synthase deficiency is thus far the only known polyamine deficiency syndrome in humans.

Key words

Spermine Spermine synthase X-linked intellectual disability Snyder–Robinson ­syndrome Polyamine deficiency 


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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Charles E. Schwartz
    • 1
    Email author
  • Xaiojing Wang
    • 2
  • Roger E. Stevenson
    • 1
  • Anthony E. Pegg
    • 3
  1. 1.Greenwood Genetic CenterJ.C. Self Research InstituteGreenwoodUSA
  2. 2.Department of Cellular and Molecular Physiology, Milton S. Hershey Medical CenterPennsylvania State University College of MedicineHersheyUSA
  3. 3.College of Medicine, Milton S. Hershey Medical CenterPennsylvania State UniversityHersheyUSA

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