Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.1.3.9 (glucose-6-phosphatase)
 3,081 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We examined three adult Japanese patients who had a history of decreased hepatic glucose-6-phosphatase activity. All three patients had increased bilateral subcutaneous (SC) fat in the lower eyelids and inverted eyelashes. One patient additionally showed retinal hemorrhages and microaneurysms in both fundi. The inverted eyelashes may have been related to type 1a glycogen storage disease.
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PMID:Inverted eyelashes in patients with type 1a glycogen storage disease. 273 80

The phosphate/pyrophosphate translocase protein (T2) of the hepatic microsomal glucose-6-phosphatase system was identified and then purified using antibodies raised against the rat mitochondrial phosphate/hydroxyl ion antiport protein. The T2 protein was shown to be absent in the microsomes isolated from a patient previously diagnosed as having type lc glycogen storage disease.
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PMID:The identification of T2; the phosphate/pyrophosphate transport protein of the hepatic microsomal glucose-6-phosphatase system. 283 Oct 86

A microtechnique has been developed which enables a complete kinetic analysis of the human hepatic microsomal glucose-6-phosphatase system to be carried out in microsomes isolated from very small liver samples. Complete or partial deficiencies of any of the proteins of the glucose-6-phosphatase system resulting in Type 1a, 1b, 1c or 1d glycogen storage disease can be therefore be diagnosed using hepatic needle biopsy samples, whereas previous methods of diagnosis needed large wedge biopsy samples requiring laparotomy.
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PMID:A new microtechnique for the analysis of the human hepatic microsomal glucose-6-phosphatase system. 283 51

The glucose-6-phosphatase enzyme protein of the human hepatic microsomal glucose-6-phosphatase system was identified as a 36.5 kDa polypeptide. The 36.5 kDa glucose-6-phosphatase enzyme protein was shown to be absent in the microsomes isolated from a patient previously diagnosed as having a type 1a glycogen storage disease.
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PMID:Identification of the human hepatic microsomal glucose-6-phosphatase enzyme. 284 59

The hepatic glucose-6-phosphatase system was studied with a novel microanalytical technique in adult patients undergoing liver biopsy. 4 patients were diagnosed as having type 1 glycogen storage disease (GSD). 3 of these patients, who had hypoglycaemic symptoms, had variations of type 1a GSD, which is caused by a defect in the hepatic microsomal glucose-6-phosphatase enzyme. The fourth, with hepatomegaly and no hypoglycaemic symptoms, had a normal glucose-6-phosphatase enzyme but a defect in the hepatic microsomal phosphate/pyrophosphate translocase T2; this is the first report of an adult with type 1c GSD. Adult type 1 GSD should be considered in patients with unresolved hypoglycaemic symptoms and/or unresolved hepatomegaly.
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PMID:Diagnosis of type 1a and type 1c glycogen storage diseases in adults. 288 97

Type I glycogen storage disease (McKusick 23220), an inherited absence or deficiency of glucose-6-phosphatase (EC 3.1.3.9) activity in the liver, kidney and intestine, is associated with the accumulation of glycogen in those organs. Previous reports have shown that glucose-6-phosphatase exists in human placenta and that detection of a heterozygote for this disorder from placenta might be possible. Our finding of a normal glucose-6-phosphatase activity in a placenta from a patient at risk for type Ia glycogen storage disease prompted us to examine in more detail placental glucose-6-phosphatase. Unexpectedly, we found the properties of the placental enzyme differed from that in normal liver, and the placental enzyme hydrolyzed glucose-6-phosphate, mannose-6-phosphate, beta-glycerol phosphate and glucose-1-phosphate equally well. Our data suggest the enzyme deficient in type I glycogen storage disease cannot be detected in placenta.
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PMID:Liver-specific glucose-6-phosphatase is not present in human placenta. 302 46

Glycogen content and six major enzymatic activities involved in glycogen metabolism were analysed in chorionic villi (CV). Glycogen levels were found to be lower than those known to exist in liver and muscle. Activities of alpha-glucosidase, amylo-1,6-glucosidase, phosphorylase b and phosphorylase kinase were detectable by standard methods. The enzymatic activities of glucose-6-phosphatase and phosphorylase a were undetectable. These findings suggest that CV biopsies can be useful for first-trimester diagnosis of glycogen storage disease types II, III and VI, but not for type I (glucose-6-phosphatase deficiency).
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PMID:Enzymatic activity of glycogen metabolism in chorionic villi. 302 29

Type IV glycogenosis is due to branching enzyme deficiency and is usually manifested clinically by progressive liver disease with cirrhosis and hepatic failure between the second and fourth years of life. We describe a 5-year-old boy who, following an acute febrile illness at 2 years of age, was first noted to have hepatomegaly with mildly elevated serum transaminase levels. Liver biopsy revealed hepatic fibrosis with periodic-acid Schiff-positive, diastase-resistant inclusions in hepatocytes and fibrillar inclusions characteristic of amylopectin by electron microscopy. Enzymatic assay revealed deficient hepatic branching enzyme activity with normal activity of glucose-6-phosphatase, debranching enzyme and phosphorylase activities. During the succeeding 3 years, he grew and developed normally with apparent resolution of any clinical evidence of liver disease and only intermittent elevation in serum transaminase levels associated with fever and prolonged fasting. Repeat liver biopsy at 4 years of age showed persistence of scattered hepatocellular periodic-acid Schiff-positive, diastase-resistant inclusions, but no progression of hepatic fibrosis in spite of persistent deficiency of hepatic branching enzyme activity. Skeletal muscle and skin fibroblasts from the patient also showed deficient enzyme activity. Skin fibroblasts from both parents exhibited half the normal control activity, suggesting a heterozygote state. This is the first documented patient with deficiency of branching enzyme but without evidence of progressive hepatic disease. This patient, coupled with reports of other patients with late onset hepatic or muscle disease with branching enzyme deficiency, suggests that the defect resulting in Type IV glycogen storage disease is more heterogenous and possibly more common than previously suspected.
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PMID:A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease. 316 25

Liver glycogenosis (GSD) are hereditary in diseases caused by deficiencies of the three major enzymatic systems involved degradation of glycogen: glucose-6-phosphatase (GSD VI). The aims of this paper are, in a first part, to summarize the biological and physiological aspects of these disorders in order to propose an update diagnostic process, and, in a second part, to point out the clinical features and the possible evolution of such patients becoming adults, according to the French experience.
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PMID:[Hepatic glycogenoses. Introduction]. 316 6

Liver glycogenosis (GSD) are hereditary diseases caused by deficiencies of the three major enzymatic systems involved in glycogenolysis: glucose-6-phosphatase (GSD I), debranching enzyme (GSD III) and phosphorylase system (GSD VI). Biological and physiopathological aspects of these disorders are described. An up to date diagnostic process which includes measurement of glycogen and enzymatic activities, in the most appropriate tissue material, is proposed.
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PMID:[Biological and physiopathological aspects of hepatic glycogenoses]. 316 7


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