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[CrossRef] [Google Scholar] Mitochondrial fatty acid oxidation disorders: laboratory diagnosis, pathogenesis, and the complicated route to treatment

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The BCKAs are then irreversibly oxidatively decarboxylated by BCKDH to produce the corresponding acyl CoA derivates (isovaleryl-CoA from KIC, 2-methylbutyryl-CoA from KMV, and isobutyryl-CoA from KIV)

Disease manifestations are classified as covert, grade I, grade II, grade III, and grade IV, according to the patient's clinical characteristics (behavioral changes, confusion, bradypsychia, sleep-wake cycle alterations, incoherent speech, lethargy, stupor, and coma) and neuropsychologic or psychometric alterations

These surface proteins not only regulate LD size and stability but also serve as molecular scaffolds that recruit lipases or tether LDs to partner organelles, integrating storage with utilization (2)