| First Author | Ferreira P | Year | 2017 |
| Journal | Mol Genet Metab | Volume | 120 |
| Issue | 4 | Pages | 317-324 |
| PubMed ID | 28285122 | Mgi Jnum | J:243311 |
| Mgi Id | MGI:5908080 | Doi | 10.1016/j.ymgme.2017.02.009 |
| Citation | Ferreira P, et al. (2017) Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency. Mol Genet Metab 120(4):317-324 |
| abstractText | 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 that c.491dup does not produce soluble protein and c.324G>C results in a catalytically less efficient Met108Ile enzyme that is prone to proteolytic degradation. The biochemical phenotype of hypertryptophanemia and hyperserotoninemia does not appear to have significant clinical consequences. |
