Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome

Pyruvate dehydrogenase complex (PDHC) deficiency is a mitochondrial disorder. We report two cases of PDHC deficiency with clinical symptoms and brain imaging findings reminiscent of FOXG1 syndrome, suggesting a phenotypic overlap of these disorders.

Detalles Bibliográficos
Autores principales: Akaba, Yuichi, Takahashi, Satoru, Takeguchi, Ryo, Tanaka, Ryosuke, Nabatame, Shin, Saitsu, Hirotomo, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981633/
https://www.ncbi.nlm.nih.gov/pubmed/33768920
http://dx.doi.org/10.1002/ccr3.3883
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author Akaba, Yuichi
Takahashi, Satoru
Takeguchi, Ryo
Tanaka, Ryosuke
Nabatame, Shin
Saitsu, Hirotomo
Matsumoto, Naomichi
author_facet Akaba, Yuichi
Takahashi, Satoru
Takeguchi, Ryo
Tanaka, Ryosuke
Nabatame, Shin
Saitsu, Hirotomo
Matsumoto, Naomichi
author_sort Akaba, Yuichi
collection PubMed
description Pyruvate dehydrogenase complex (PDHC) deficiency is a mitochondrial disorder. We report two cases of PDHC deficiency with clinical symptoms and brain imaging findings reminiscent of FOXG1 syndrome, suggesting a phenotypic overlap of these disorders.
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spelling pubmed-79816332021-03-24 Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome Akaba, Yuichi Takahashi, Satoru Takeguchi, Ryo Tanaka, Ryosuke Nabatame, Shin Saitsu, Hirotomo Matsumoto, Naomichi Clin Case Rep Case Reports Pyruvate dehydrogenase complex (PDHC) deficiency is a mitochondrial disorder. We report two cases of PDHC deficiency with clinical symptoms and brain imaging findings reminiscent of FOXG1 syndrome, suggesting a phenotypic overlap of these disorders. John Wiley and Sons Inc. 2021-02-06 /pmc/articles/PMC7981633/ /pubmed/33768920 http://dx.doi.org/10.1002/ccr3.3883 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Akaba, Yuichi
Takahashi, Satoru
Takeguchi, Ryo
Tanaka, Ryosuke
Nabatame, Shin
Saitsu, Hirotomo
Matsumoto, Naomichi
Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome
title Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome
title_full Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome
title_fullStr Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome
title_full_unstemmed Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome
title_short Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome
title_sort phenotypic overlap between pyruvate dehydrogenase complex deficiency and foxg1 syndrome
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981633/
https://www.ncbi.nlm.nih.gov/pubmed/33768920
http://dx.doi.org/10.1002/ccr3.3883
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