Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?

ABSTRACT: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic disorders affecting valine and isoleucine catabolism. Long-term therapy mainly involves dietary protein restriction. An amino acid mixture (AAM, medical food) free of the precursor amino acids is frequently used, especially when protein intake does not reach World Health Organization (WHO) recommendations. However, its clinical impact on disease control and patient outcomes remains unclear. Our study aimed to retrospectively review the dietary prescriptions in a cohort of vitamin B12-unresponsive MMA and PA patients and to analyze their impact on clinical and laboratory parameters. Clinical data, anthropometric measurements and dietary prescriptions were collected from the patients' medical and dietary files.

SUBMITTER: Margoses D 

PROVIDER: S-EPMC12678014 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature