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). 

Blondeau, E Laporte, J. Bodin, S. Superti-Furga, G. Payrastre, B. Man-del, J.-L. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Hum. Mol. Genet., 9, 2223-2229 (2000)... 

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

Schlesinger, B. E., Luder, J., and Bodian, M., Rickets with alkaline phosphatase deficiency an osteoblastic dysplasia. Arch. Disease Childhood 30, 265-276 (1955). 

At least four cases of PDC deficiency have been described in which the intrinsic defect lay not in the complex per se but in one of the two genetically distinct isozymes required to dephospho-rylate the serine residues of the El a subunit. The clinical signs of PDP deficiency do not distinguish it from primary defects of Ela, El(3, E2, E3, or BE The most telling biochemical abnormality reported to date has been the inability to activate PDC in cells cultured with DCA. However, neither direct measurements of PDP activity nor mutations in the PDP gene have been reported for any published case of phosphatase deficiency. 

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 ... 

The importance of this covalent control is illustrated in people with a phosphatase deficiency. Because pyruvate dehydrogenase is always phosphorylated and thus inactive, glucose is processed to lactic acid. This condition results in unremitting lactic acidosis (high Wood levels of lactic acid), which leads to the malfunctioning of many tissues, most notably the central nervous system (Section 17.3.2). 

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. 

Acid Phosphatase Activity op Cultivated Fibboblasts in Lysosomal Acid Phosphatase Deficiency ... 

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. 

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