Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis()

Complex III deficiency due to a MT-CYB mutation has been reported in patients with myopathy. Here, we describe a 15-year-old boy who presented with metabolic acidosis, ketotic hypoglycemia and carnitine deficiency. Electron transport chain analysis and mitochondrial DNA sequencing on muscle tissue l...

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Autores principales: Mori, Mari, Goldstein, Jennifer, Young, Sarah P., Bossen, Edward H., Shoffner, John, Koeberl, Dwight D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750615/
https://www.ncbi.nlm.nih.gov/pubmed/26937408
http://dx.doi.org/10.1016/j.ymgmr.2015.06.001
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author Mori, Mari
Goldstein, Jennifer
Young, Sarah P.
Bossen, Edward H.
Shoffner, John
Koeberl, Dwight D.
author_facet Mori, Mari
Goldstein, Jennifer
Young, Sarah P.
Bossen, Edward H.
Shoffner, John
Koeberl, Dwight D.
author_sort Mori, Mari
collection PubMed
description Complex III deficiency due to a MT-CYB mutation has been reported in patients with myopathy. Here, we describe a 15-year-old boy who presented with metabolic acidosis, ketotic hypoglycemia and carnitine deficiency. Electron transport chain analysis and mitochondrial DNA sequencing on muscle tissue lead to the eventual diagnosis of complex III deficiency. This case demonstrates the critical role of muscle biopsies in a myopathy work-up, and the clinical efficacy of supplement therapy.
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spelling pubmed-47506152016-03-02 Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis() Mori, Mari Goldstein, Jennifer Young, Sarah P. Bossen, Edward H. Shoffner, John Koeberl, Dwight D. Mol Genet Metab Rep Case Report Complex III deficiency due to a MT-CYB mutation has been reported in patients with myopathy. Here, we describe a 15-year-old boy who presented with metabolic acidosis, ketotic hypoglycemia and carnitine deficiency. Electron transport chain analysis and mitochondrial DNA sequencing on muscle tissue lead to the eventual diagnosis of complex III deficiency. This case demonstrates the critical role of muscle biopsies in a myopathy work-up, and the clinical efficacy of supplement therapy. Elsevier 2015-06-30 /pmc/articles/PMC4750615/ /pubmed/26937408 http://dx.doi.org/10.1016/j.ymgmr.2015.06.001 Text en © 2015 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Mori, Mari
Goldstein, Jennifer
Young, Sarah P.
Bossen, Edward H.
Shoffner, John
Koeberl, Dwight D.
Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis()
title Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis()
title_full Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis()
title_fullStr Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis()
title_full_unstemmed Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis()
title_short Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis()
title_sort complex iii deficiency due to an in-frame mt-cyb deletion presenting as ketotic hypoglycemia and lactic acidosis()
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750615/
https://www.ncbi.nlm.nih.gov/pubmed/26937408
http://dx.doi.org/10.1016/j.ymgmr.2015.06.001
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