Publication | Open Access

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease

Mitochondrial DiseaseMitochondrial BiogenesisMitochondrial FunctionBiochemistryGenetic DisorderMetabolic DiseaseInherited Metabolic DiseaseGeneticsAldehyde DehydrogenasePathologyIsoleucine MetabolismX-linked Inborn ErrorMetabolismMedicineOxidative Stress