A Novel Plasma Biomarker for Snyder Robinson Syndrome (X-Linked Spermine Synthase Deficiency)

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.