glycogen storage disease type I(English)

• first specific enzymopathy identified in a hereditary disorder. Caused by deficiency of glucose-6 phosphatase (G6Pase) activity. On physical examination the liver may be enlarged at birth or it becomes enlarged in a very short time. Laboratory abnormalities include hypoglycemia, lactic acidosis, hyperlipidemia (particularly hypertriglyceridemia), and hyperuricemia. Also known as Von Gierke disease; glucose-6-phosphatase deficiency; hepatorenal glycogenosis
• G6Pase, GSD, GSD-V, GSD VII
• Genetics, Enzymes, Liver disease, Clinical chemistry
• https://doi.org…jg.v13.i18.2541