Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis.
Publication
, Journal Article
Mori, M; Goldstein, J; Young, SP; Bossen, EH; Shoffner, J; Koeberl, DD
Published in: Mol Genet Metab Rep
September 2015
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.
Duke Scholars
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Published In
Mol Genet Metab Rep
DOI
ISSN
2214-4269
Publication Date
September 2015
Volume
4
Start / End Page
39 / 41
Location
United States
Related Subject Headings
- 3202 Clinical sciences
- 3105 Genetics
- 0604 Genetics
- 0601 Biochemistry and Cell Biology
Citation
APA
Chicago
ICMJE
MLA
NLM
Mori, M., Goldstein, J., Young, S. P., Bossen, E. H., Shoffner, J., & Koeberl, D. D. (2015). Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis. Mol Genet Metab Rep, 4, 39–41. https://doi.org/10.1016/j.ymgmr.2015.06.001
Mori, Mari, Jennifer Goldstein, Sarah P. Young, Edward H. Bossen, John Shoffner, and Dwight D. Koeberl. “Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis.” Mol Genet Metab Rep 4 (September 2015): 39–41. https://doi.org/10.1016/j.ymgmr.2015.06.001.
Mori M, Goldstein J, Young SP, Bossen EH, Shoffner J, Koeberl DD. Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis. Mol Genet Metab Rep. 2015 Sep;4:39–41.
Mori, Mari, et al. “Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis.” Mol Genet Metab Rep, vol. 4, Sept. 2015, pp. 39–41. Pubmed, doi:10.1016/j.ymgmr.2015.06.001.
Mori M, Goldstein J, Young SP, Bossen EH, Shoffner J, Koeberl DD. Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis. Mol Genet Metab Rep. 2015 Sep;4:39–41.
Published In
Mol Genet Metab Rep
DOI
ISSN
2214-4269
Publication Date
September 2015
Volume
4
Start / End Page
39 / 41
Location
United States
Related Subject Headings
- 3202 Clinical sciences
- 3105 Genetics
- 0604 Genetics
- 0601 Biochemistry and Cell Biology