We observed elevations of 3-methoxytyrosine and decreased levels of dopamine and vanillylmandelate in AADC deficiency, elevations of 2-pyrrolidinone in ABAT deficiency, elevations of succinyladenosine in ADSL deficiency, increased citrate in citrate transporter deficiency, and elevations of imidazole propionic acid, cis and trans-urocanate in urocanase deficiency. The gene discussed is ADSL; the disease is hyperinsulinemic hypoglycemia, familial, 4.