The connection between MMUT deficiency and induction of autophagy was substantiated by the increased formation of SQSTM1/p62+ aggregates containing polyubiquitinated proteins in MMA cells, despite unchanged levels of SQSTM1 and unmodified activity of the proteasome (Supplementary Fig. 5e, f). Here, SQSTM1 is linked to hyperinsulinemic hypoglycemia, familial, 4.