Glycogen Storage Disease Type 1a: Potentially Treatable and Often Missed-A Series of 3 Patients

Abstract

Introduction: Glycogen storage disease type I (GSDI) is an autosomal recessive disorder characterized by accumulation of glycogen and fat in the liver and kidneys. Most commonly, untreated infants present at age three to four months with hepatomegaly, lactic acidosis, hyperuricemia, hyperlipidemia, hypertriglyceridemia and/or hypoglycemic seizures. Affected children have doll-like faces, relatively thin extremities, short stature, and protuberant abdomen. There are two subtypes (GSDIa and GSDIb) which are clinically indistinguishable.