Glucose-6-phosphatase deficiency

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

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)... 

Fructose-1,6-bisphosphatase deficiency, first describ ed by Baker and Winegrad in 1970, has now been reported in approximately 30 cases. It is more common in women and is inherited as an autosomal recessive disorder. Initial manifestations are not strikingly dissimilar from those of glucose-6-phosphatase deficiency. Neonatal hypoglycemia is a common presenting feature, associated with profound metabolic acidosis, irritability or coma, apneic spells, dyspnea, tachycardia, hypotonia and moderate hepatomegaly. Lactate, alanine, uric acid and ketone bodies are elevated in the blood and urine [11]. The enzyme is deficient in liver, kidney, jejunum and leukocytes. Muscle fructose-1,6-bisphosphatase activity is normal. 

In a person with glucose 6-phosphatase deficiency, ingestion of galactose or fructose causes no increase in blood glucose, nor does administration of glucagon or epinephrine. 

Diabetes, alcoholism, and glucose 6-phosphatase deficiency all can produce less severe hypertriglyceridemia with an increase in VLDL and chylomicrons. Factors contributing to the hyperlipidemia are ... 

The concentration of free Pj decreases as it may in galactosemia, hereditary fructose intolerance, and glucose 6-phosphatase deficiency. 

Groups of 20 female Fischer 344 rats, eight weeks of age, were fed a diet containing 0 (control), 0.03, 0.10 or 1.2% di(2-ethylhexyl) phthalate [purity not specified] for two years. Neoplastic nodules or hepatocellular carcinomas were seen in 0/18 control, 1/18 low-dose, 1/19 mid-dose and 6/20 high-dose rats p < 0.01). Di(2-ethylhexyl) phthalate did not induce foci of altered hepatocytes as judged by basophilia, ATPase-deficiency or glucose-6-phosphatase-deficiency (Cattley et al., 1987). 

TYPE la VON GIERKE DISEASE [GLUCOSE 6-PHOSPHATASE DEFICIENCY) Type lb GLUCOSE 6-PHOSPHA TE e TRANSLOCASE DEFICIENCY... 

Hyperuricemia. Many patients with glucose 6-phosphatase deficiency have high serum levels of urate. Hyperuricemia can be induced in normal people by the ingestion of alcohol or by strenuous exercise. Propose a common mechanism that accounts for these findings. 

Smit, G. R, Verc ers, M. T, Belderok, B., Van Rijn, M, Beiger, R-, and Fernandes, J, (1988), Complex carbohydrates in the management of patients with glycogenesis caused by glucose-6-phosphatase deficiency. Am, /, Clir . Nutr. 48, 95-97. 

An infant with an enlarged liver has a glucose 6-phosphatase deficiency. This infant... 

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

Lactic acidosis and substrate cycling in glucose-6-phosphatase deficiency. Urinary lactate output is increased 10- to 300-fold in patients with type I glycogen storage disease. 

Excessive production of organic acids leads to elevated levels of uric acid. Lactate, acetoacetate, and /1-hydroxybutyrate (the latter two are known as ketone bodies) compete with uric acid for secretion by the kidney tubules. Lactic acidemia can occur in glucose-6-phosphatase deficiency and in alcohol ingestion. Ketonemia and ketonuria occur in untreated diabetes mel-litus, starvation, glucose-6-phosphatase deficiency, etc. (Figure 27-17). 

Glucose-6-phosphatase deficiency (glycogen storage disease type 1)... 

Lactic acidosis can also result from inhibition of lactate utilization in gluconeoge-nesis (e.g., hereditary fructose intolerance, which is due to a defective aldolase gene). If other pathways that use glucose-6-P are blocked, glucose-6-P can be shunted into glycolysis and lactate production (e.g., glucose 6-phosphatase deficiency). 

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