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Shaibani et al1 describe a patient with the phenotype of mitochondrial neurogastrointestinal encephalopathy (MNGIE) with a plasma thymidine concentration within the reference range. However, we believe their assertion that the reference plasma thymidine concentration is less than 150 mmol/L is incorrect; the accepted reference concentration is nearer to less than 0.05 μmol/L. The thymidine concentration of 100 mmol/L in the patient described, therefore, is markedly elevated. This is important because a high concentration of thymidine is thought to be central to the pathogenesis of MNGIE and, consequently, the aim of endeavors to treat MNGIE (principally bone marrow transplant and enzyme replacement) has been to achieve sustained lowering of plasma thymidine.2 - 4 The occurrence of MNGIE in the absence of elevated thymidine would represent an important challenge to the validity of this approach; therefore, we would welcome clarification by Shaibani et al.
Correspondence: Department of Neurology, Kings College Hospital, Denmark Hill, London SE9 5RS, England (nfm10@aol.com).
Financial Disclosure: None reported.
Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature
Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal
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