Glycogen Storage Disease Type I: Prognostic Factors and Treatment

Abstract

Glycogen storage disease type I (GSD I) is an inherited disorder that hinders theability of the liver to effectively break down stored glycogen, leading to difficulties inmaintaining appropriate blood sugar levels. The main treatment for this aspect ofGSD I involves the use of filgrastim, although patients often require additionaltreatment for recurrent infections, and an enlarged spleen is a common side effect.Acute lactic acidosis, which can cause respiratory distress and ketoacidosis innewborns, can be triggered by minor illnesses and accompanied by severehypoglycemia. Early diagnosis and prompt initiation of appropriate metabolictreatment are crucial in preventing the devastating effects of this condition. Theoverall prognosis and long-term efficacy of treatment are influenced by variousfactors, including the timing of diagnosis, adherence to dietary protocols, andavailability of appropriate medical interventions