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

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.