Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency

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.4...

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Bibliografiske detaljer
Udgivet i:Mol Genet Metab
Main Authors: Ferreira, Patrick, Shin, Inchul, Sosova, Iveta, Dornevil, Kednerlin, Jain, Shailly, Dewey, Deborah, Liu, Fange, Liu, Aimin
Format: Artigo
Sprog:Inglês
Udgivet: 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5421356/
https://ncbi.nlm.nih.gov/pubmed/28285122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2017.02.009
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