The Reciprocal Interplay between Infections and Inherited Metabolic Disorders

Albina Tummolo1, Livio Melpignano2

  • 1Department of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children Hospital, Azienda Ospedaliero-Universitaria Consorziale, 70126 Bari, Italy.

Microorganisms
|October 28, 2023
PubMed

Insights

Infections can worsen inherited metabolic disorders (IMDs) through various mechanisms, including immune compromise and metabolic pathway disruption. Understanding these links is crucial for better IMD management and targeted therapies.

Area of Science:

  • Biochemistry
  • Immunology
  • Genetics

Background:

  • Infections are a primary trigger for acute metabolic derangements and clinical deterioration in inherited metabolic disorders (IMDs).
  • The precise molecular mechanisms linking infections and IMDs remain incompletely understood.
  • This review synthesizes current knowledge on the multifaceted relationship between infections and IMDs.

Purpose of the Study:

  • To elucidate the diverse mechanisms through which infections impact inherited metabolic disorders.
  • To provide a comprehensive overview of this under-investigated area of medical research.
  • To highlight the clinical significance of understanding infection-IMD interactions.

Main Methods:

  • Literature review of existing studies on infections and inherited metabolic disorders.
  • Analysis of pathogenetic mechanisms, including immune system function and metabolic pathways.
  • Synthesis of pre-clinical evidence on infection-induced metabolic alterations.

Main Results:

  • Infections can exacerbate IMDs via compromised immune function due to energy production defects.
  • Congenital disorders of glycosylation, affecting protein-attached glycans, represent an additional pathogenetic link.
  • Nutritional deficiencies can impair immune response to infections in IMD patients.
  • Emerging evidence indicates infections disrupt metabolic pathways, causing further cellular alterations.

Conclusions:

  • Infections play a significant role in the clinical course of many inherited metabolic disorders.
  • A deeper understanding of infection-IMD interactions is essential for improved patient management.
  • Targeted therapeutic strategies may be developed by focusing on these complex relationships.

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