An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.
Alena WeltersSarah M LeiterNadine BachmannCarsten BergmannHenrike HoermannEckhard KorschThomas MeissnerFelicity PayneRachel WilliamsKhalid HussainRobert K SempleSebastian KummerPublished in: Orphanet journal of rare diseases (2023)
We expand the spectrum of PI3K-related hypoinsulinaemic hypoketotic hypoglycaemia. We demonstrate that pathogenic germline variants activating post-insulin-receptor signalling may cause non-syndromic hypoinsulinaemic hypoketotic hypoglycaemia closely resembling CHI. This distinct biochemical footprint should be sought and differentiated from CHI in infantile hypoglycaemia. To facilitate adoption of this differential diagnosis, we propose the term "pseudohyperinsulinism".