Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome)

Methods Mol Biol. 2011:720:437-45. doi: 10.1007/978-1-61779-034-8_28.

Abstract

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.

MeSH terms

  • Enzyme Assays
  • Female
  • Genes, X-Linked / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Mental Retardation, X-Linked / genetics
  • Mutation / genetics
  • Spermidine / metabolism
  • Spermine / metabolism
  • Spermine Synthase / deficiency*
  • Spermine Synthase / genetics

Substances

  • Spermine
  • Spermine Synthase
  • Spermidine

Supplementary concepts

  • Snyder Robinson syndrome