What is organic acidemia?

Organic acidemia is a disorder of organic acid metabolism.

Organic acidemia is generally caused by inherited genetic factors or certain severe underlying diseases in patients. It results from metabolic abnormalities in amino acids, fatty acids, carbohydrates, and other substances, leading to an accumulation of intermediate metabolites such as organic acids. This can cause metabolic acidosis, and patients may experience symptoms including nausea, vomiting, malnutrition, lethargy, and hypotonia. Early diagnosis and prompt treatment are essential. Treatment is primarily symptomatic and supportive. Without timely intervention, complications such as hypoglycemia and ketoacidosis may develop. Organic acidemia is a hereditary metabolic disorder caused by autosomal abnormalities. It is usually difficult to cure completely and can only be managed through ongoing treatment. When necessary, patients may require dietary supplementation with specific amino acids to meet their body's needs.

If a patient is diagnosed with organic acidemia, they should actively cooperate with healthcare professionals in treatment. In daily life, patients should maintain a bland diet and limit the intake of fats, sugars, and similar substances. Additionally, maintaining a positive mental outlook and avoiding negative emotions are important.