Gierke’s disease

Type 1 Von Gierke s disease Deficiency of glucose-6-phosphatase Liver cells and renal tubule cells loaded with glycogen. Hypoglycemia, lactic-acidemia, ketosis, hyperlipemia. [Pg.152]

Purine overproduction and hyperuricemia in von Gierke s disease (glucose-6-phosphatase deficiency)... [Pg.300]

Humans catabolize purines to uric acid (pA 5.8), present as the relatively insoluble acid at acidic pH or as its more soluble sodium urate salt at a pH near neutrality. Urate crystals are diagnostic of gout. Other disorders of purine catabolism include Lesch-Nyhan syndrome, von Gierke s disease, and hypo-uricemias. [Pg.301]

Another class of carbohydrate and fatty acid metabolism disorders is caused by systemic metabolic defects that affect the brain. Glucose-6-phosphatase deficiency (glycogenosis type I, Von Gierke s disease)... [Pg.704]

I (lA and IB) Glucose-6-phosphatase von Gierke s disease Enlarged liver and kidney slowed growth very low blood sugar levels abnormally high levels of acid, fats and uric acid in blood growth failure... [Pg.111]

XI Glucose transporter, GLUT2 Fanconi-Bickel syndrome Similar to Von Gierke s disease, e.g. hypoglycaemia... [Pg.111]

D-2) Glucftse 6-phosphatase deficiency Cl pe I GSD Von Gierke s Disease). There is a deficiency at this step in the formation of glucose by the liver. Glucose 6-phosphate instead forms other things and the flow of reactions shifts to ... [Pg.49]

Fig. 31.12 Gierke s disease phytocyte-like hepatocytes surrounded by a delicate network of fibrosis...

Storage diseases Some of the genetic metabolic diseases require special dietary measures, e.g. (1.) disorders of the urea cycle are treated by means of a diet similar to that applied in encephalopathy (s. p. 594), (2.) Gierke s disease necessitates a high-carbohydrate diet (s. p. 595), (i.) Cori s disease is treated with formula diets and a starch diet (s. p. 596), (4.) galactosaemia requires a galactose-and lactose-free diet (s. p. 597), and (5.) in fructose intolerance, a fructose- and saccharose-free diet must be given, (s. p. 597)... [Pg.853]

Percent conversion to a-n-glucopyranosyl phosphate by muscle phosphorylase this is a measure of the exterior chain length. This glycogen was incorrectly described as coming from a case of von Gierke s disease. ... [Pg.293]

A. Glucose 6-phosphatase deficiency is a glycogen storage disease (von Gierke s disease) in... [Pg.182]

QUESTION 8.6 Patients with Von Gierke s disease (a glycogen storage disease) lack glucose-6-phosphatase activity. Two prominent symptoms of this disorder are fasting hypoglycemia and lactic acidosis. Can you explain why these symptoms occur ... [Pg.255]

In glycogen storage disease (GSD type I, van Gierke s disease), a low Hb Aj , level has been recorded. In galactosemia, the inherited inability to... [Pg.49]

Big Chemical Encyclopedia