Hipoglucemia Refractaria como signo de Glucogenosis Temprana en Pediatría

Clinical hypoglycemia is defined as a plasma glucose concentration suficiently low to cause symptoms and/or signs of impaired brain function. Many diseases can cause hypoglycemia and glucogenosis is one of these; a disease described in 1952 by Cori and Cori, and known as von Gierke's disease or glucose-6-phosphatase deficiency. The frequency of all types of glycogenosis is 1:20000 to 1:25000 in live newborns. In this publication we present the case of a patient with a history of hypoglycemia since the first day of life, associated with multiple hospitalizations for the same cause. His laboratory perfil and metabolic stress tests suggested glycogenosis so treatment with fractionated diet and raw starch was considered. Genetic panel for glycogenosis was taken which is pending. Persistent hypoglycemia is a common finding in glycogenosis, which requires an exhaustive study and individualized management to obtain the best clinical outcome and the least possible sequelae.