RESUMEN
Abstract Glycogen storage disease type I is an autosomal recessive disorder of carbohydrate metabolism that manifests mainly by hepatomegaly and hypoglycemia with short fasts. Despite strict therapy, patients present long-term renal and liver complications. Data of 36 patients,29 GSD Ia and 7 Ib from a high complexity Hospital in Argentina was collected retrospectively. Collected data included diagnosis, anthropometric, biochemical parameters, therapy and follow-up. Treatment increased Height SDS (p=0.012). Patients with good adherence to therapy presented better growth parameters (p=0.049). Instead, admissions were detrimental (p =0.031) and were more common in Ib patients (p=0.002). The early appearance of complications (liver adenomas and nephropathy) was related to sustained triglyceride values > 500mg / dl (p=0.009 and 0.046 respectively). With intensive dietary treatment, clinical and biochemical status improves but cannot be completely corrected in most patients. Growth improves with treatment and this is optimized with adequate adherence. We must take into account that with ageing, more complications will develop.
RESUMEN
Glycogen storage disease (GSD) is a rela-tively rare inherited metabolic disease. However, its relative rarity implies that no metabolic centre has experience of large numbers of patients and experience with long-term manage-ment is limited. In addition, there is wide variation in meth-ods of medical treatment. With the development of medical care, life-expectancy in glycogen storage disease (GSD) has improved considerably. With ageing liver adenoma may de-velop which will bring about several complications-compres-sion, hemorrhage, or even transformation into carcinomas-and needs immediate intervention. In this paper, reviews for the mechanism and surgical intervention of GSD are presented.