Definitive Diagnosis of Mitochondrial Neurogastrointestinal Encephalomyopathy by Biochemical Assays
Open Access
- 1 January 2004
- journal article
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 50 (1) , 120-124
- https://doi.org/10.1373/clinchem.2003.026179
Abstract
Background: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the gene encoding thymidine phosphorylase (TP). The clinical manifestations of MNGIE are recognizable and homogeneous, but in the early stages, the disease is often misdiagnosed. This study assesses the reliability of biochemical assays to diagnose MNGIE.Keywords
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