Rebalancing polyamine levels to treat Snyder–Robinson syndrome

Snyder–Robinson syndrome (SRS) is a rare genetic disorder characterized by intellectual disability and delayed development beginning early in childhood. It was first described in a single family in 1969 as a sex‐linked disorder (Snyder & Robinson, 1969) and has since been only identified in less than 100 individuals worldwide. Inherited in an X‐linked recessive pattern, SRS has only been identified in males thus far. Snyder–Robinson syndrome primarily affects the nervous system and skeletal tissues and is caused by loss‐of‐function mutations in the gene encoding spermine synthase (SMS), a polyamine biosynthesis enzyme. Affected males display a collection of clinical features including intellectual disability ranging from mild to profound, speech and vision impairment, osteoporosis, hypotonia, and increasing loss of muscle tissue with age, kyphoscoliosis, seizures, and distinctive facial features including a prominent lower lip and facial asymmetry. Currently, there is no cure or treatment for this debilitating disorder aside from symptom management.

Angaben zum Objekt

• Standort: Deutsche Nationalbibliothek Frankfurt am Main
• Umfang: Online-Ressource
• Sprache: Englisch

Verweise und Beziehungen

• Erschienen in: Rebalancing polyamine levels to treat Snyder–Robinson syndrome ; day:15 ; month:09 ; year:2023 ; extent:3 ; EMBO molecular medicine / European Molecular Biology Organization ; (15.09.2023) (gesamt 3)

Beteiligte, Orts- und Zeitangaben

• Urheber: Gilmour, Susan K.

Weitere Informationen

• DOI: 10.15252/emmm.202318506
• URN: urn:nbn:de:101:1-2023091515280036897079
• Rechteinformation: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Letzte Aktualisierung: 14.08.2025, 10:57 MESZ