Glycogen storage disease IXa in a 9-year-old Filipino boy with short stature: A case report

Author: Sylvia C. Estrada ^{1
,

2}
Author Information

1. Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila
2. Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila
Publication Type:Case Reports
Keywords: Poor growth; Uncooked cornstarch
MeSH: Glycogen Storage Disease; Hepatomegaly
From: Acta Medica Philippina 2020;54(4):428-430
CountryPhilippines
Language:English
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.
Full text:1930-Article Text-9556-1-10-20200827.pdf