ArticleMolecular genetics and metabolism reports2015
Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis.
Article in Molecular genetics and metabolism reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 18 citations in OpenAlex.
- Clinical spectrum and genotype-phenotype correlations ofFrontiers in neuroscience · 2026Article
- A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease.Scientific reports · 2022Article
- A Case of Combined Oxidative Phosphorylation Deficiency 35 Associated with a Novel Missense Variant of theMolecular syndromology · 2022Article
- Organization of the Respiratory Supercomplexes in Cells with Defective Complex III: Structural Features and Metabolic Consequences.Life (Basel, Switzerland) · 2021Review
- Mitochondrial disorders.Annals of translational medicine · 2018Review
- Article
- Unusual recovery of respiratory chain complex-III deficiency upon G-tube feeding and a cocktail.Molecular genetics and metabolism reports · 2016Article
- Mitochondrial Dynamics during Development.Newborn (Clarksville, Md.)Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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