PDHA1 and pyruvate dehydrogenase deficiency: WES also provided actionable, treatment-modifying effect for at least three patients (15% of the diagnosed, 6% of all): ketogenic diet was recommended for the patients with GLUT1 deficiency syndrome (MIM#612126; SLC2A1) and pyruvate dehydrogenase deficiency (#312170; PDHA1), and L-serine supplementation was initiated for the patient suffering of SPATCCM (MIM#616657; SLC4A1).