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Article

Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency.

Molecular genetics and metabolism - 1 Apr 2017

Ferreira Patrick, Shin Inchul, Sosova Iveta, Dornevil Kednerlin, Jain Shailly, Dewey Deborah, Liu Fange, Liu Aimin

Abstract excerpt

In this report we describe the first human case of hypertryptophanemia confirmed to be due to tryptophan 2,3-dioxygenase deficiency. The underlying etiology was established by sequencing the TDO2 gene, in which there was compound heterozygosity for two rare variants: c.324G>C, p.Met108Ile and c.491dup, p.Ile165Aspfs*12. The pathogenicity of these variants was confirmed by molecular-level studies, which showed...

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Identifiers

PMID: 28285122
DOI: 10.1016/j.ymgme.2017.02.009
PMCID: PMC5421356

Genes

TDO2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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