An abnormal profile has important diagnostic as well as therapeutic implications, such as neurotransmitter supplementation, e.g., in GTCPH deficiency, or even in additional non-classic IMDs, e.g., in a PAK3 deficiency patient with severe automutilation and low CSF homovanillic acid (HVA) [27]. This evidence concerns the gene PAK3 and hyperinsulinemic hypoglycemia, familial, 4.