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Article

Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome.

Journal of inherited metabolic disease - 1 Dec 2010

Bakker Jaap A, Schlesser Patrick, Smeets Hubert J M, Francois Baudouin, Bierau Jörgen

Abstract excerpt

Deficiency of the cytosolic enzyme thymidine phosphorylase (TP) causes a multisystem disorder called mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome. Clinical symptoms are gastrointestinal dysfunction, muscle involvement and neurological deterioration. TP deficiency is biochemically characterised by accumulation of thymidine and deoxyuridine in body fluids and compromised mitochondrial...

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Identifiers

PMID: 20151198
DOI: 10.1007/s10545-010-9049-y
PMCID: PMC3757267

Genes

SCT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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