thiamine pyrophosphokinase deficiency causes a leigh disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies
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ID: 237644
2014
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Abstract
We present a sibling pair with Leigh-like disease, progressive hypotonia, regression, and chronic encephalopathy. Whole exome sequencing in the younger sibling demonstrated a homozygous thiamine pyrophosphokinase (TPK) mutation. Initiation of high dose thiamine, niacin, biotin, α-lipoic acid and ketogenic diet in this child demonstrated improvement in neurologic function and re-attainment of previously lost milestones. The diagnosis of TPK deficiency was difficult due to inconsistent biochemical and diagnostic parameters, rapidity of clinical demise and would not have been made in a timely manner without the use of whole exome sequencing. Molecular diagnosis allowed for attempt at dietary modification with cofactor supplementation which resulted in an improved clinical course.
| Reference Key |
fraser2014molecularthiamine
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| Authors | ;Jamie L. Fraser;Adeline Vanderver;Sandra Yang;Taeun Chang;Laura Cramp;Gilbert Vezina;Uta Lichter-Konecki;Kristina P. Cusmano-Ozog;Patroula Smpokou;Kimberly A. Chapman;Dina J. Zand |
| Journal | advances in skin & wound care |
| Year | 2014 |
| DOI |
10.1016/j.ymgmr.2013.12.007
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