The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay?

Area of Science:

• Microbiology
• Human Genetics
• Metabolic Disorders

Background:

• The human microbiome significantly impacts multifactorial diseases like obesity and inflammatory bowel disease.
• Inborn errors of metabolism (IEMs), while monogenic, exhibit significant phenotypic variability unexplained by genotype alone.
• Genetics and diet shape the microbiome, and dietary interventions are common in IEM management.

Purpose of the Study:

• To review the influence of the microbiome on IEM phenotypes.
• To explore how microbiome-host interactions affect organs targeted by IEMs, such as the liver and brain.
• To discuss the interplay between IEM treatment strategies and the microbiome.

Main Methods:

• Literature review of studies on the microbiome and inborn errors of metabolism.
• Analysis of host-microbiome interactions in the context of IEMs.
• Examination of current and potential therapeutic strategies involving the microbiome.

Main Results:

• The microbiome can modulate host responses, potentially contributing to IEM phenotypic diversity.
• Interactions between the microbiome and key organs like the liver and brain are implicated in IEM pathogenesis.
• Dietary interventions in IEMs may influence the microbiome, impacting treatment efficacy.

Conclusions:

• Microbiome research is crucial for understanding the phenotypic variability in inborn errors of metabolism.
• Further investigation into host-microbiome interactions is needed to elucidate IEM pathogenesis and guide therapeutic development.
• The microbiome represents a potential therapeutic target for managing IEMs and their associated complications.