Glycogen Storage Disease IXa in a 9-year-old Filipino Boy with Short Stature: A Case Report

  • Sylvia C. Estrada
Keywords: Glycogen storage disease IXa, hepatomegaly, poor growth, uncooked cornstarch

Abstract

Glycogen storage disease (GSD) type IXa, due to a deficiency of hepatic phosphorylase b kinase, results in liver enlargement, growth retardation and fasting ketosis. Many are asymptomatic and do not require treatment. This is the first documented GSD IXa in a Filipino boy evaluated for short stature.

Published
2020-08-27