<unk>  also known as Von Gierke's disease is an enzymopathy. The most common defect is deficiency of glucose-6-phosphatase enzyme. Glucose-6-phosphatase is an enzyme located on the inner membrane of the endoplasmic reticulum. Glucose-6-phosphatase catalyzes the conversion of glucose-6-phosphate to glucose during glycogenolysis and gluconeogenesis. The inability of glucose-6-phosphate to leave cells leads to severe fasting hypoglycemia. Impairment of glycogenolysis leads to the accumulation of fat and glycogen deposition resulting in characteristic hepatomegaly.<unk>  is an autosomal recessive disorder.<unk> a is caused by the deficiency of the glucose-6-phosphatase enzyme.<unk> b is caused by a defect in the microsomal glucose-6-phosphate transporter. The incidence of<unk>  <unk>  is approximately 1 per 100,000 individuals worldwide.<unk>  <unk>  presents first as an average age of 6 months (1 - 12 months). If left untreated,<unk>  develop complications including protruding abdomen due to marked hepatomegaly<unk>  of glycogen and fat), short stature, truncal obesity, rounded doll-like face, and wasted muscles.<unk>  is diagnosed by identification of proband by either molecular genetic testing or enzyme activity assay. Molecular genetic testing shows biallelic pathogenic variants in G6PC for patients with GSD type 1a and biallelic pathogenic variants in SLC37A4 for patients with GSD type 1b. Liver transplantation is the final treatment for patients with metabolic disease associated associated with GSD type 1. The medical management of GSD type 1 is divided into nutritional therapy and medical management of systemic complications. The primary concern in infants and young children with GSD type 1 is hypoglycemia.  There is resolution of metabolic derangements (correction of hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia) after liver transplantation in patients with GSD type 1. Effective measures for primary prevention of<unk>  include genetic counseling, prenatal diagnosis, and screening. Effective measures for secondary prevention of<unk>  (GSD type 1) include blood glucose (BG) monitoring, prevent overtreatment, growth tracking as well as several system wise recommendations including general medical care, gastrointestinal or nutritional, hepatic and hepatic transplantation, nephrology, hematology, cardiovascular, surgery/anesthesia, and gynecological/obstetrical recommendations.
Glycogen storage disease type I
Glycogen storage disease type V
Glycogen storage disease type VII
Glycogen storage disease type VI
Glycogen storage disease type XI
Essential fructosuria
Gaucher's disease
Hereditary fructose intolerance