How Do You Spell METHYLMALONYL COA MUTASE?

1. Methylmalonyl CoA mutase is a key enzyme involved in cellular metabolism, specifically in the breakdown of certain molecules in the body. It belongs to the family of mutases, which are enzymes that catalyze the rearrangement of chemical groups within molecules. This particular mutase acts on methylmalonyl CoA, a compound formed during the breakdown of fats and proteins.

   The primary function of methylmalonyl CoA mutase is to convert methylmalonyl CoA into succinyl CoA. Succinyl CoA is an essential intermediate in the citric acid cycle, also known as the Krebs cycle, which is a vital metabolic pathway responsible for energy production in the form of adenosine triphosphate (ATP). Through its rearrangement reaction, this enzyme facilitates the conversion of methylmalonyl CoA into succinyl CoA, ensuring the proper flow of carbon molecules through the citric acid cycle.

   Deficiencies or mutations in the gene responsible for encoding methylmalonyl CoA mutase can lead to a rare inherited disorder known as methylmalonic acidemia. Individuals with this condition are unable to properly break down certain proteins, resulting in the accumulation of toxic levels of methylmalonic acid in the blood and tissues. This can lead to a range of symptoms, including lethargy, poor feeding, vomiting, metabolic acidosis, and if left untreated, can even be life-threatening.

Common Misspellings for METHYLMALONYL COA MUTASE