Methylmalonic Acidemia with Renal Involvement: A Case Report and Review of Literature

Abstract

Methylmalonic acidemia (MMA) is an inborn error of metabolism that results in the accumulation in blood, and increased excretion in the urine of, methylmalonic acid. It may present either as an acute, often fatal, condition in infancy, or in a more chronic intermittent form in older children. Organ involvement including kidneys has been described. We report here the presentation and management of a ten-year-old boy who had MMA and chronic renal failure.

Keywords

• Methylmalonic acid
• Renal failure
• Metabolic acidosis.