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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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
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author Yoshida, Takanobu
Kido, Jun
Mitsubuchi, Hiroshi
Matsumoto, Shirou
Endo, Fumio
Nakamura, Kimitoshi
author_facet Yoshida, Takanobu
Kido, Jun
Mitsubuchi, Hiroshi
Matsumoto, Shirou
Endo, Fumio
Nakamura, Kimitoshi
author_sort Yoshida, Takanobu
collection PubMed
description 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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spelling pubmed-54514732017-06-05 Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival Yoshida, Takanobu Kido, Jun Mitsubuchi, Hiroshi Matsumoto, Shirou Endo, Fumio Nakamura, Kimitoshi Hum Genome Var Data Report 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. Nature Publishing Group 2017-06-01 /pmc/articles/PMC5451473/ /pubmed/28584645 http://dx.doi.org/10.1038/hgv.2017.20 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
spellingShingle Data Report
Yoshida, Takanobu
Kido, Jun
Mitsubuchi, Hiroshi
Matsumoto, Shirou
Endo, Fumio
Nakamura, Kimitoshi
Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival
title Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival
title_full Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival
title_fullStr Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival
title_full_unstemmed Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival
title_short Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival
title_sort clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival
topic Data Report
url 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
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