Lethargy In an Infant: Unfolded as Methyl Malonic Aciduria

Abstract

Methyl malonic aciduria (MMA) is a rare inherited metabolic disorder characterized by the inability of the body to process certain proteins and fats properly and is primarily caused by mutations in genes involved in the metabolism of vitamin B12. Patients often exhibit symptoms such as failure to thrive, developmental delays, lethargy, dehydration, vomiting, and metabolic acidosis which can lead to severe complications, including neurological damage, kidney dysfunction, and even death. Diagnosis of methyl malonic aciduria involves measuring levels of methyl malonic acid in the blood and urine, along with genetic testing to identify the specific gene mutations responsible. Management requires dietary interventions aimed at restricting protein intake and supplementing with vitamin B12, however, in some cases, patients may require additional treatments, such as the administration of carnitine or medications that lower the levels of toxic metabolites.