Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency

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Abstract

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.

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Journal

Journal ID (nlm-journal-id): 9805456

Journal ID (pubmed-jr-id): 20853

Journal ID (nlm-ta): Mol Genet Metab

Journal ID (iso-abbrev): Mol. Genet. Metab.

Title: Molecular genetics and metabolism

ISSN (Print): 1096-7192

ISSN (Electronic): 1096-7206

Publication date Nihms-submitted: 18 March 2017

Publication date (Electronic): 01 March 2017

Publication date (Print): April 2017

Publication date PMC-release: 01 April 2018

Volume: 120

Issue: 4

Pages: 317-324

Affiliations

[a ]Division of Medical Genetics, Alberta Children’s Hospital

[b ]Department of Chemistry, University of Texas at San Antonio, San Antonio, TX. USA

[c ]Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton AB Canada

[d ]Department of Medical Genetics, University of Alberta, Edmonton AB Canada

[e ]Departments of Pediatrics and Community Health Sciences, University of Calgary, Calgary AB. Canada

[f ]Department of Chemistry, Georgia State University, Atlanta, GA, USA

Author notes

[* ]To whom correspondence may be addressed. patrick.ferreira@ 123456ahs.ca or Feradical@ 123456utsa.edu

[1]

P.F. and I.S. contributed equally to this work.

[2]

Current address: Department of Chemistry, University of Chicago, Chicago, IL 60637, USA.

Article

Accession ID: PMC5421356 Pmcid ID: PMC5421356 Pmc-uid ID: 5421356 Manuscript ID: nihpa858813

DOI: 10.1016/j.ymgme.2017.02.009

PMC ID: 5421356

PubMed ID: 28285122

SO-VID: ac5992d4-5a8d-45aa-aef0-fd0d6d8a2b6e

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