Arq. Bras. Cardiol. 2020; 114(4 suppl 1): 23-26
Glycogen Storage Disease Type I (Von Gierke disease): Report of Two Cases with Severe Dyslipidemia
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 and Cori analyzed liver biopsies of patients with similar symptoms, and observed a partial or total absence of glucose-6-phosphatase (G6Pase) enzyme activity – this entity became known as Von Gierke disease. Nordlie et al., in studies carried out in the 70’s, also using liver biopsies, observed normal levels of G6Pase enzyme, but with decreased activity. Thus, Glycogen Storage Disease Type I is characterized by G6Pase deficiency, a key enzyme in glycogen metabolism, which leads to the reduction in glycogenolysis and gluconeogenesis and, consequently, to hepatic accumulation of glucose-6-phosphate (G6P).
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