All AMACR deficiency patients had elevated DHCA and THCA plasma levels at the start of CA treatment (median: 3.6 and 9.3 μmol/L, respectively [reference range 0–0.02 μmol/L and 0–0.08 μmol/L, respectively]). The gene discussed is AMACR; the disease is hyperinsulinemic hypoglycemia, familial, 4.