The potential role of gut microbiota and its modulators in the management of propionic and methylmalonic acidemia

Alberto Burlina*, Sebastian Tims, Francjan van Spronsen, Wolfgang Sperl, Alessandro P. Burlina, Mirjam Kuhn, Jan Knol, Maryam Rakhshandehroo, Turgay Coşkun, Rani H. Singh, Anita MacDonald

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

2 Citations (Scopus)


Introduction: Propionic and methylmalonic acidemia (PA/MMA) are rare inborn errors of metabolism characterized by accumulation of propionyl CoA and/or methylmalonyl CoA, resulting in potentially serious metabolic crises and clinical complications. The gut microbiota contributes a significant proportion of total propionate production and provides a potentially modifiable target. Empiric use of oral antibiotics to reduce propionate production is a common approach but is hampered by possible drug resistance, perturbation of normal gut microbiota, and toxicity. Moreover, constipation, associated with low fiber intake, inadequate fluid intake, low gut motility, and other factors, is a chronic problem in this patient population and may influence propionate production. Newer management techniques that reduce the burden of propionate and address these clinical challenges are needed. Areas covered: This paper summarizes the potential contribution of gut-related factors in PA/MMA and considers modifying gut microbiota as a management approach. Expert opinion: Dietary management of PA/MMA may be improved by specific prebiotics that modify gut microbiota to stabilize or possibly reduce PA production.

Original languageEnglish
Pages (from-to)683-692
JournalExpert Opinion on Orphan Drugs
Issue number11
Publication statusPublished - 23 Oct 2018


  • methylmalonic acid
  • microbiota
  • prebiotic
  • probiotic
  • Propionic acid

Fingerprint Dive into the research topics of 'The potential role of gut microbiota and its modulators in the management of propionic and methylmalonic acidemia'. Together they form a unique fingerprint.

Cite this