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Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency.
Ferreira, Patrick; Shin, Inchul; Sosova, Iveta; Dornevil, Kednerlin; Jain, Shailly; Dewey, Deborah; Liu, Fange; Liu, Aimin.
Affiliation
  • Ferreira P; Division of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada. Electronic address: patrick.ferreira@ahs.ca.
  • Shin I; Department of Chemistry, University of Texas at San Antonio, San Antonio, TX, USA.
  • Sosova I; Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB, Canada.
  • Dornevil K; Department of Chemistry, University of Texas at San Antonio, San Antonio, TX, USA; Department of Chemistry, Georgia State University, Atlanta, GA, USA.
  • Jain S; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.
  • Dewey D; Department of Pediatrics, University of Calgary, Calgary, AB, Canada; Department of Community Health Sciences, University of Calgary, Calgary, AB, Canada.
  • Liu F; Department of Chemistry, University of Texas at San Antonio, San Antonio, TX, USA; Department of Chemistry, Georgia State University, Atlanta, GA, USA.
  • Liu A; Department of Chemistry, University of Texas at San Antonio, San Antonio, TX, USA; Department of Chemistry, Georgia State University, Atlanta, GA, USA. Electronic address: Feradical@utsa.edu.
Mol Genet Metab ; 120(4): 317-324, 2017 04.
Article in En | MEDLINE | ID: mdl-28285122
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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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tryptophan Oxygenase / Amino Acid Metabolism, Inborn Errors / Mutation Limits: Female / Humans / Newborn Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2017 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tryptophan Oxygenase / Amino Acid Metabolism, Inborn Errors / Mutation Limits: Female / Humans / Newborn Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2017 Document type: Article