Abstract:

Inborn errors of metabolism (IEMs) are a group of monogenic diseases caused by defects in enzyme, receptor, cofactor or transporter during biochemical metabolism of amino acids, carbohydrates, organic acids, fatty acids and mitochondrial energy metabolism. The metabolic emergencies due to disorders in IEM leads to high mortality and disability rates in children. Improving nutrition management in acute illness is of great significance to the prognosis of IEM. Based on the latest guidelines and expert consensus of IEM at home and abroad, combined with clinical practice, we introduced the principles and protocols of nutrition management in the acute illness of IEM, which aims to improve the nutrition management and long-term prognosis of IEM.

Key words: inborn errors of metabolism, acute metabolic disorders, nutritional management