Is methylmalonic acidemia hereditary?
Dec 12, 2025
Source: Cainiu Health
Dr. Li Feng
Introduction
In general, methylmalonic acidemia is a genetic disorder, specifically an autosomal recessive metabolic disease, and proper medical care is crucial for controlling the condition. Diet must strictly follow medical advice, with restricted protein intake—especially methionine and threonine—to prevent the production of toxic substances. Adequate energy supply should be ensured, using easily digestible foods to maintain normal body metabolism.
Generally, methylmalonic acidemia is a hereditary disease and belongs to autosomal recessive metabolic disorders. The detailed analysis is as follows:
Methylmalonic acidemia is genetic and classified as an autosomal recessive disorder. The causative gene is located on the autosomes; the child only develops the disease if both parents carry the defective gene and pass it on simultaneously. This genetic defect leads to deficient or reduced activity of the enzyme responsible for metabolizing methylmalonic acid in the body, resulting in the accumulation of toxic substances such as methylmalonic acid. This buildup damages multiple organs including the nervous system, liver, and kidneys, leading to corresponding symptoms.
Scientific care is crucial for managing the condition. Diet must strictly follow medical advice, with restricted protein intake—especially amino acids such as methionine and threonine—to prevent the production of toxic substances. Ensure adequate energy supply and choose easily digestible foods to maintain normal metabolism. Closely monitor mental status, appetite, and growth and development, and regularly recheck liver and kidney function along with metabolic indicators. Maintain warmth, practice good personal hygiene, reduce the risk of infections, and promptly consult a doctor if any abnormalities occur.
