Abstract:

The main manifestation of carbohydrate metabolic emergencies in inborn errors of metabolism is ketotic hypoglycemia. In the case of insufficient carbohydrate intake or fasting, children may have drowsiness, encephalopathy and even sudden death, and some children are accompanied by liver failure, dyskinesia or cardiac dysfunction. The diagnosis was confirmed by DNA analysis and/or detection of enzyme activity in cultured skin fibroblasts, liver cells, white blood cells, or red blood cells. Management of hypoglycemia and metabolic acidosis, provision of ventilatory and circulatory support, treatment of infection, liver replacement therapy, and other relatively specific treatments or enzyme replacement therapy are the keys to save the life.

Key words: glucose metabolism, emergency, hypoglycemia, child