AB082. Glycogen storage disease IXa in a Filipino patient

摘要

BackgroundGlycogen storage disease (GSD) type IX, due to the deficiency of hepatic phosphorylase b kinase, results in liver enlargement, growth retardation and fasting ketosis. Though, many patients with this disorder are asymptomatic and do not require treatment, a number of patient can develop liver cirrhosis and growth retardation. Early diagnosis and treatment with cornstarch may prevent liver cirrhosis and promote better growth and development. This is a case report of the first documented GSD IXa in a Filipino boy who was evaluated for suboptimal growth.