However, as the membrane-bound enzymatic machinery of long-chain fatty acids remains intact, ketogenesis should not be completely disrupted in ECHS1-deficient individuals and, assumingly, the resulting clinical phenotype should be relatively benign – similar to SCAD deficiency.18,19 In fact, ECHS1-deficient individuals showed mild to moderate hypoketosis, but did neither present with hypoketotic hypoglycemia and hypoglycemic encephalopathy nor were acylcarnitine profiles in blood suggestive of a mitochondrial β-oxidation disorder. Here, ECHS1 is linked to short chain acyl-CoA dehydrogenase deficiency.