Abstract
Background: Snyder-Robinson syndrome (SRS) is a rare X-linked mental retardation syndrome caused by mutations in the spermine synthase (SMS) gene. SMS dysfunction causes a reduction in intracellular spermine, a polyamine involved in various cellular processes. To date, the diagnosis of SRS relied on an elevated spermidine/spermine ratio in lymphoblasts and/or sequencing of the SMS gene.
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