High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome.

Molema F, Haijes HA, Janssen MC, Bosch AM, van Spronsen FJ, Mulder MF, Verhoeven-Duif NM, Jans JJM, van der Ploeg AT, Wagenmakers MA, Rubio-Gozalbo ME, Brouwers MCGJ, de Vries MC, Fuchs S, Langendonk JG, Rizopoulos D, van Hasselt PM, Williams M

Clinical nutrition (Edinburgh, Scotland), 2021 05


Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inborn errors of metabolism. While survival of MMA and PA patients has improved in recent decades, long-term outcome is still unsatisfactory. A protein restricted diet is the mainstay for treatment. Additional amino acid mixtures (AAM) can be prescribed if natural protein is insufficient. It is unknown if dietary treatment can have an impact on outcome.

doi: 10.1016/j.clnu.2020.12.027