| Mitochondrial dysfunction | Cytochrome c oxidase deficiency impairs oxidative phosphorylation, reducing cellular energy production, particularly in metabolically active neurons |
| Oxidative damage | Reduced superoxide dismutase activity leads to accumulation of oxidative-stress and oxidative damage to lipids, proteins, and DNA |
| Catecholamine imbalance | Dopamine beta-hydroxylase deficiency disrupts catecholamine biosynthesis, with elevated DOPA-to-dihydroxyphenylglycol (DHPG) ratios serving as a diagnostic biomarker |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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