Utility of Whole Blood Thiamine Pyrophosphate Evaluation in <i>TPK1</i>-Related Diseases

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in <i>TPK1</i>-Related Diseases

<i>TPK1</i> mutations are a rare, but potentially treatable, cause of thiamine deficiency. Diagnosis is challenging given the phenotypic overlap that exists with other metabolic and neurological disorders. We report a case of <i>TPK1</i>-related disease presenting with Leigh-...

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Bibliographic Details
Main Authors: Enrico Bugiardini, Simon Pope, René G. Feichtinger, Olivia V. Poole, Alan M. Pittman, Cathy E. Woodward, Simon Heales, Rosaline Quinlivan, Henry Houlden, Johannes A. Mayr, Michael G. Hanna, Robert D.S. Pitceathly
Format: Article
Language:English
Published: MDPI AG 2019-07-01
Series:Journal of Clinical Medicine
Subjects:
mitochondrial diseases
<i>TPK1</i>
thiamine pyrophosphate
Leigh syndrome
thiamine deficiency
Online Access:https://www.mdpi.com/2077-0383/8/7/991

Internet

https://www.mdpi.com/2077-0383/8/7/991

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