Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)

Fairbanks, LD, Marinaki, AM, Carrey, EA, Hammans, SR and Duley, JA (2002) Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE). Journal of Inherited Metabolic Disease, 25 7: 603-604. doi:10.1023/A:1022007827133


Author Fairbanks, LD
Marinaki, AM
Carrey, EA
Hammans, SR
Duley, JA
Title Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)
Journal name Journal of Inherited Metabolic Disease   Check publisher's open access policy
ISSN 0141-8955
Publication date 2002
Sub-type Article (original research)
DOI 10.1023/A:1022007827133
Volume 25
Issue 7
Start page 603
End page 604
Total pages 2
Place of publication Dordrecht
Publisher Kluwer Academic Publ
Language eng
Abstract We report the presence of the unusual nucleoside deoxyuridine in the urine of a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (MIM 603041) due to thymidine phosphorylase (TP:EC 2.4.2.4) deficiency. Thymidine, uracil and thymine were also elevated. We propose that inhibition of thymidylate synthetase by TMP leads to the accumulation of dUMP which may be degraded to deoxyuridine or metabolised to dUTP. Incorporation of dUTP into mtDNA may explain the multiple deletions characteristic of TP deficiency.
Keyword Endocrinology & Metabolism
Genetics & Heredity
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Pharmacy Publications
 
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Created: Fri, 25 Jan 2008, 15:49:58 EST