1. Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?
- Author
-
Conti F, Di Martino S, Drago F, Bucolo C, Micale V, Montano V, Siciliano G, Mancuso M, and Lopriore P
- Subjects
- Humans, Mitochondria genetics, Mitochondria metabolism, Oxidative Phosphorylation, Mitochondrial Diseases diagnosis, Mitochondrial Diseases genetics, Mitochondrial Diseases metabolism, Medicine
- Abstract
Primary mitochondrial diseases (PMDs) are complex group of metabolic disorders caused by genetically determined impairment of the mitochondrial oxidative phosphorylation (OXPHOS). The unique features of mitochondrial genetics and the pivotal role of mitochondria in cell biology explain the phenotypical heterogeneity of primary mitochondrial diseases and the resulting diagnostic challenges that follow. Some peculiar features ("red flags") may indicate a primary mitochondrial disease, helping the physician to orient in this diagnostic maze. In this narrative review, we aimed to outline the features of the most common mitochondrial red flags offering a general overview on the topic that could help physicians to untangle mitochondrial medicine complexity.
- Published
- 2023
- Full Text
- View/download PDF