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Article

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.

European journal of human genetics : EJHG - 1 Aug 2024

Riley Lisa G, Sabui Subrata, Said Hamid M, Niaz Aram, Girisha Katta M, Radhakrishnan Periyasamy, Nampoothiri Sheela, Yesodharan Dhanya, Kilo Tatjana, Smith Janine, Wong Rachel S H, Menezes Manoj P, Gupta Sachin, Cooper Sandra T, Balasubramaniam Shanti

Abstract excerpt

The sodium-dependent multivitamin transporter encoded by SLC5A6 is responsible for uptake of biotin, pantothenic acid, and α-lipoic acid. Thirteen individuals from eight families are reported with pathogenic biallelic SLC5A6 variants. Phenotype ranges from multisystem metabolic disorder to childhood-onset peripheral motor neuropathy. We report three additional affected individuals with biallelic SLC5A6 variants....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38816490
DOI: 10.1038/s41431-024-01641-8
PMCID: PMC11291669

Genes

SLC5A6

Variants

Provenance

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