Oxidative Stress and Inflammation in Methylmalonic and Propionic Acidemias: A Review

Area of Science:

• Biochemistry
• Genetics
• Neurology

Background:

• Methylmalonic acidemia and propionic acidemia are inherited metabolic disorders.
• Deficiencies in methylmalonyl-CoA mutase or propionyl-CoA carboxylase lead to toxic metabolite accumulation.
• These conditions often result in severe neurological impairment, coma, and death if untreated.

Purpose of the Study:

• To review the role of oxidative stress and inflammation in methylmalonic acidemia and propionic acidemia.
• To understand the oxidative stress profile in these diseases.
• To explore new therapeutic perspectives, particularly antioxidant treatments.

Main Methods:

• Review of findings from studies involving patients, cell models, and animal models.
• Analysis of biochemical markers of oxidative stress and inflammation.
• Evaluation of the impact of accumulated metabolites on cellular processes.

Main Results:

• Accumulated metabolites in methylmalonic acidemia and propionic acidemia increase reactive species production.
• Decreased antioxidant defenses and elevated inflammation markers are observed.
• Oxidative damage to lipids, proteins, and DNA is evident in affected models and patients.

Conclusions:

• Oxidative stress and inflammation are key contributors to the pathophysiology of methylmalonic acidemia and propionic acidemia.
• These processes are implicated in the severe neurological damage associated with these disorders.
• Antioxidant interventions may offer therapeutic benefits for patients.