α-KGDH deficiency (ORPHA:31; OMIM 203740) leads to a recessive neurometabolic disorder defined by cognitive impairment (HP:0100543), movement disorder (HP:0100022), lactic acidosis (HP:0003128), and increased urine α-ketoglutarate concentration (HP:0012402).10 This evidence concerns the gene OGDH and hyperinsulinemic hypoglycemia, familial, 4.