Glicogenose Ia: uma revisão de literatura

Abstract

Glycogen storage disease type Ia is an autosomal recessive disorder that is the enzyme glucose-6-phosphatase deficiency, which is part of the glycogen metabolism, affecting gluconeogenesis, glycogenolysis and glycolysis. The symptoms usually appear in neonates due the hypoglycemia that it generates. Most common complication involve: growth retard, kidney disease, platelet dysfunction, osteopenia, brain damage, lactic acidosis, hiperuricemia and hiperlipidemia. Treatment is basically dietary therapy and its non-compliance can lead to irreversible damage. This literature review includes information since the first demonstration of glycogenosis until the most recent studies.