Glycogen storage diseases, Type I Glucogenosis

Abstract

Background: The human body, to obtain energy, breaks down carbohydrates from the diet and converts them into glucose. This process of providing glucose to the body is limited to 2-3 postprandial hours, therefore, a mechanism that guarantees the sustained and sufficient supply of this resource, essential for energy metabolism, is essential. Glycogenosis is a heterogeneous group of hereditary diseases, mostly of autosomal recessive inheritance, which are characterized by a failure in the glycogen metabolic pathway. They are also called “rare” or “orphan” diseases, since few people have them. suffer or have been diagnosed. Objective: synthesize the most current information regarding glycogen diseases type Ia and Ib. Methodology: A narrative bibliographic review was carried out based on a search for scientific articles in the specialized databases SciELO and PubMed. The selection criteria for the construction of the manuscript are: articles in English and/or Spanish that include information regarding the pathophysiology, clinical manifestations, diagnosis and therapeutic approach of glycogenosis type Ia and Ib. Results: An easy-to-read scientific document was constructed that addresses the main topics of glycogenosis Ia and Ib in a way that is accessible to all health levels. Conclusion: Glycogenosis covers a wide range of diseases related to specific enzymatic abnormalities that, depending on the specific type, are more or less complex to diagnose and approach. General area of ​​study: medicine. Specific study area: pediatrics and medical genetics. Type of study: narrative review.