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Article

Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C.

Cold Spring Harbor molecular case studies - 1 Nov 2017

Auranen Mari, Toppila Jussi, Suriyanarayanan Saranya, Lone Museer A, Paetau Anders, Tyynismaa Henna, Hornemann Thorsten, Ylikallio Emil

Abstract excerpt

Hereditary sensory neuropathy type 1 (HSAN1) may be the first genetic neuropathy amenable to a specific mechanism-based treatment, as L-serine supplementation can be used to lower the neurotoxic levels of 1-deoxysphingolipids (1-deoxySL) that cause the neurodegeneration. The treatment is so far untested in HSAN1C caused by variants in the serine palmitoyl transferase subunit 2 (SPTLC2) gene. The aim of this study...

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Source

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Identifiers

PMID: 29042446
DOI: 10.1101/mcs.a002212
PMCID: PMC5701299

Genes

SPTLC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C.PMID 29042446Read ↗

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