Abstract
Background: Mutations in the serine palmitoyltransferase long chain base subunit 1 gene (SPLTC1) have been linked to hereditary sensory and autonomic neuropathy type 1 (HSAN1). SPTLC1 mutations alter the canonical activity of serine palmitoyltransferase and consequently induce the production of 1-deoxy-sphingolipid causing neuronal toxicity. Pilot studies for HSAN1 treatment with increasing availability of L-serine has showed promising outcome. To identify SPTLC1 mutations in HSAN1 patients would provide opportunity for the specific management.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
