A monthly publication of the Brazilian Society of Cardiology and considered the main channel for the promotion of Brazilian cardiovascular research.
ISSN 0066-782X
eISSN 1678-4170
Julia Maria Avelino Ballavenuto
, Jéssica D´Ório Dantas de Oliveira, Renato Jorge Alves
Julia Maria Avelino Ballavenuto
, Jéssica D´Ório Dantas de Oliveira, Renato Jorge Alves
Introduction Glycogen storage diseases are a group of disorders caused by inherited errors of metabolism, resulting in abnormal glycogen concentration and/or structure in various body tissues. Nowadays, there are 14 types of glycogen storage disease, which are classified according to enzyme or transporter deficiency and to the different organ distribution of these defects. In 1929, Edgar von Gierke described an increased deposition of glycogen in body tissues in the autopsy reports of young individuals with hemorrhagic manifestations. In 1952, Gerty […]
Keywords: Dyslipidemias; Gluconeogenesis; Glucose-6-Phosphate; Glycogen Strage Disease Type 1/complications; Hepatomegaly; Hypoglycemia