The proper identification of some of these genes could allow us to use specific treatments that potentially improve prognosis (as in the case of Cobalamin C deficiency), result in a redirection of care (NFU mitochondrial disease), or even in the consideration of an early Potts shunt or lung transplantation (in cases of FOXF1 variants). Here, FOXF1 is linked to methylmalonic aciduria and homocystinuria type cblC.