What’s methylmalonic acidemia?

Methylmalonic acidemia is an autosomal recessive disorder. Due to reduced activity of methylmalonyl coenzyme A transferase or defects in its coenzyme cobalamin, symptoms such as intermittent ketoacidosis, increased methylmalonic acid in blood and urine, and damage to the central nervous system are often observed. 1. Methylmalonic acidemia is an autosomal recessive disease, the pathogenesis of which is a decrease in the activity of methylmalonyl coenzyme A mutase or a defect in its coenzyme cobalamin. Intermittent ketoacidosis, increased methylmalonic acid in blood and urine, and damage to the central nervous system often occur, manifested by nausea and vomiting, anemia, drowsiness, etc., and coma may occur in serious conditions. 2. Methylmalonic acidemia is often caused by genetic reasons, there is no effective treatment to get rid of the disease, usually need to carry out symptomatic treatment. 3. In normal life, we should pay attention to strengthen the nutrition, reasonable diet, do not eat spicy and stimulating greasy food, pay attention to cold and warm, do not catch a cold, avoid fatigue, regular life, to ensure sufficient sleep. If you are found to be suffering from the disease, please consult the hospital in time and actively diagnose and treat the disease to avoid delay.