He presented with mild lactic acidosis (3.6 mmol/l; reference < 2.1 mmo/l), hepatopathy (aspartate transaminase 614 U/l, reference 10–50 U/L; alanine transaminase 266 U/l, reference 6–53 U/l; partial thromboplastin time 178 s, reference 28–43 sec; prothrombin time 47%, reference 70–130%; fibrinogen 83 mg/dl, reference 150–380 mg/dl; antithrombin III 51%, reference 84–124%), rhabdomyolysis (creatine kinase 485 U/l; reference 41–330 U/l) and dilated cardiomyopathy (N-terminal brain natriuretic peptide 5468 ng/l; reference < 84 ng/l). The gene discussed is SERPINC1; the disease is lactic acidosis.