TXNIP and lactic acidosis: TXNIP deficiency caused by a loss-of-function variant c.174_175delinsTT (resulting in a frameshift and premature stop codon p.Gln58Hisfs*2) has been previously reported in three siblings with congenital lactic acidosis, low serum methionine levels, variable hypoglycaemia and other metabolic alterations (Katsu-Jimenez et al, 2019).