Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival

Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) results in lactic acidosis and hyperpyruvatemia. Two patients with PDHAD, a man with a p.R263Q mutation, and a girl with a p.C145del mutation in PDHE1α, presented with lactic acidosis with neurological disorder. These patients were able to survive f...

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Detalles Bibliográficos
Autores principales: Yoshida, Takanobu, Kido, Jun, Mitsubuchi, Hiroshi, Matsumoto, Shirou, Endo, Fumio, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451473/
https://www.ncbi.nlm.nih.gov/pubmed/28584645
http://dx.doi.org/10.1038/hgv.2017.20
Descripción
Sumario:Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) results in lactic acidosis and hyperpyruvatemia. Two patients with PDHAD, a man with a p.R263Q mutation, and a girl with a p.C145del mutation in PDHE1α, presented with lactic acidosis with neurological disorder. These patients were able to survive for a long period under careful nursing care. Herein, we discuss the factors contributing to their relatively stable clinical course, albeit with intellectual disability.

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