A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

Congenital lactic acidosis due to pyruvate dehydrogenase phosphatase (PDP) deficiency is very rare. PDP regulates pyruvate dehydrogenase complex (PDC) and defective PDP leads to PDC deficiency. We report a case with functional PDC deficiency with low activated (+dichloroacetate) and inactivated (+fl...

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Bibliographic Details
Published in:JIMD Rep
Main Authors: Bedoyan, Jirair K., Hecht, Leah, Zhang, Shulin, Tarrant, Stacey, Bergin, Ann, Demirbas, Didem, Yang, Edward, Shin, Ha Kyung, Grahame, George J., DeBrosse, Suzanne D., Hoppel, Charles L., Kerr, Douglas S., Berry, Gerard T.
Format: Artigo
Language:Inglês
Published: John Wiley & Sons, Inc. 2019
Subjects:
Case Reports
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6606986/
https://ncbi.nlm.nih.gov/pubmed/31392110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12054
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