Glycogen Storage Disease IXa in a 9-year-old Filipino Boy with Short Stature: A Case Report
DOI:
https://doi.org/10.47895/amp.v54i4.1930Keywords:
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.