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doi: 10.1016/j.tvjl.2011.09.015, 104

2023;8:e1066

All SDH + & COX + Some mutations: Reduced Complex III staining in some muscle fibers Cytochrome b (MTCYB) mutations: Variant syndromes Encephalopathy & Seizures Mutation: G15242A Clinical Onset 9 to 13 years Exercise intolerance Lactic acidosis Encephalopathy Episodic Poor balance Seizures: Complex partial Visual hallucinations Psychiatric problems: Depression, Emotional lability Laboratory EEG: Abnormal Muscle: Ragged red fibers Treatment: Menadione + Ascorbate Septo-optic dysplasia 21 Mutation: T14849C

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To overcome these challenges, future research on HACE treatment mechanisms and drug development should adopt a multidisciplinary approach, integrating resources from various fields and leveraging advanced scientific and technological tools to accelerate the translation of cutting-edge therapeutic approaches from bench to bedside