Mutations in AGL are associated with glycogen storage disease IIIa and IIIb, which lead to amylo-1,6-glucosidase deficiency, hypoglycemia, hyperlipidemia, elevated transaminases, and increased serum creatine kinase, but normal blood lactate and uric acid [41]. This evidence concerns the gene AGL and hyperinsulinemic hypoglycemia, familial, 4.