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Article

Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency.

Biochemical and biophysical research communications - 28 Mar 2003

Martí Ramon, Nishigaki Yutaka, Hirano Michio

Abstract excerpt

Mutations in the nuclear gene encoding thymidine phosphorylase (TP) cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), an autosomal recessive disease with mitochondrial dysfunction and mitochondrial DNA abnormalities. We have demonstrated alterations of thymidine (dThd) metabolism in MNGIE patients. Here, we report the accumulation of another substrate of TP, deoxyuridine (dUrd), whose...

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Identifiers

PMID: 12646159
DOI: 10.1016/s0006-291x(03)00294-8

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Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency.PMID 12646159Read ↗

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