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

Abstract 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 inactiv...

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Detalhes bibliográficos

Principais autores:	Jirair K. Bedoyan, Leah Hecht, Shulin Zhang, Stacey Tarrant, Ann Bergin, Didem Demirbas, Edward Yang, Ha Kyung Shin, George J. Grahame, Suzanne D. DeBrosse, Charles L. Hoppel, Douglas S. Kerr, Gerard T. Berry
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2019-07-01
coleção:	JIMD Reports
Assuntos:	branched‐chain 2‐ketoacid dehydrogenase developmental delay lactic acidosis PDP1 pyruvate dehydrogenase complex deficiency pyruvate dehydrogenase phosphatase deficiency
Acesso em linha:	https://doi.org/10.1002/jmd2.12054
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