Deficiency of Peptidylglycine-alpha-amidating Monooxygenase, a Cause of Sarcopenic Diabetes Mellitus.
Alice GiontellaMikael ÅkerlundKevin BrontonCristiano FavaLuca A LottaAris BarasJohn D OvertonMarcus JonesAndreas BergmannPaul KaufmannYulia IlinaOlle MelanderPublished in: The Journal of clinical endocrinology and metabolism (2024)
PAM-AMA genetic deficiency results in a prediabetic sarcopenic phenotype. Early identification of PAM LoF carriers would allow targeted exercise interventions and calls for novel therapies that restore enzymatic activity.