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

Published online

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Mori, M; Goldstein, J; Young, SP; Bossen, EH; Shoffner, J; Koeberl, DD

Published Date

  • September 2015

Published In

Volume / Issue

  • 4 /

Start / End Page

  • 39 - 41

PubMed ID

  • 26937408

Pubmed Central ID

  • 26937408

International Standard Serial Number (ISSN)

  • 2214-4269

Digital Object Identifier (DOI)

  • 10.1016/j.ymgmr.2015.06.001

Language

  • eng

Conference Location

  • United States