Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)
Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)
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.
603-604
Fairbanks, L.D.
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Marinaki, A.M.
f5796a6a-8811-42e9-bcc5-7ed84c0f7d46
Carrey, E.A.
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Hammans, S.R.
6553eac5-9322-4f2b-b677-d4ba698fc10b
Duley, J.A.
938987dd-1688-4ec4-82be-c95aef0657d5
2002
Fairbanks, L.D.
b48c6ff1-3205-4cec-ae82-b63f2c9fab32
Marinaki, A.M.
f5796a6a-8811-42e9-bcc5-7ed84c0f7d46
Carrey, E.A.
09750aa0-8428-4083-8678-67247d99f5d5
Hammans, S.R.
6553eac5-9322-4f2b-b677-d4ba698fc10b
Duley, J.A.
938987dd-1688-4ec4-82be-c95aef0657d5
Fairbanks, L.D., Marinaki, A.M., Carrey, E.A., Hammans, S.R. and Duley, J.A.
(2002)
Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).
Journal of Inherited Metabolic Disease, 25 (7), .
(doi:10.1023/A:1022007827133).
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.
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Published date: 2002
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Local EPrints ID: 24696
URI: http://eprints.soton.ac.uk/id/eprint/24696
ISSN: 0141-8955
PURE UUID: 41dc33f9-64bb-42c4-9f4b-1409ad07564b
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Date deposited: 03 Apr 2006
Last modified: 15 Mar 2024 06:57
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Author:
L.D. Fairbanks
Author:
A.M. Marinaki
Author:
E.A. Carrey
Author:
S.R. Hammans
Author:
J.A. Duley
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