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Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)
Author(s) -
Fairbanks L. D.,
Marinaki A. M.,
Carrey E. A.,
Hammans S. R.,
Duley J. A.
Publication year - 2002
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1022007827133
Subject(s) - thymidine phosphorylase , deoxyuridine , thymidine , thymine , thymidylate synthase , nucleotide salvage , uracil , nucleoside , biology , purine nucleoside phosphorylase , biochemistry , microbiology and biotechnology , chemistry , dna , enzyme , genetics , nucleotide , chemotherapy , purine , fluorouracil , gene
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.