ECHA is known to be associated with multiple acyl-CoA dehydrogenase deficiency (MADD), myopathy, rhabdomyolysis and sensorimotor axonal neuropathy in mitochondrial trifunctional protein deficiency, and recurrent myalgia in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency [13,14,15,16]. Here, HADHA is linked to mitochondrial trifunctional protein deficiency.