关键词: 糖代谢, 猝死, 危重症, 低血糖

Abstract:

Carbohydrates are the important energy source of body，including glucose，galactose，fructose and glycogen. Congenital enzymes defects will cause carbohydrates metabolic disorders. Most of the carbohydrate metabolic disorders could lead to hypoglycemia. Most patients presented with chronic disease course. But some patients with serious diseases，such as glycogen storage disease type I，fructose-1，6-bisphosphate deficiency，presented as acute onset with critical illness，resulting in hypoglycemia and multiple organ damage（encephalopathy，cardiomyopathy，hepatopathy and myopathy）. Most of the carbohydrate metabolic disorders have good prognosis if the prompt diagnosis and proper intervention are available. Sudden death occurred in some severe cases. Post-morterm study by metabolic autopsy is important to conform the diagnosis and directive genetic counseling.

Key words: carbohydrate metabolic disorders, sudden death, critical illness, hypoglycemia