These insights include new diagnostic biomarkers [87,88,89], a broader range of phenotype in adenylosuccinate lyase deficiency [90], insights around pre-analytical factors [91], primary metabolic variations from drug-related changes [92,93,94] and a better understanding of the underlying pathobiological mechanism of disease [95,96,97]. Here, ADSL is linked to hyperinsulinemic hypoglycemia, familial, 4.