Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01275 (glucagon)
 26,492 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The renal disease in an adult woman with Type 1 glycogen storage disease (GSD) is reported. Since she was 15 years old, several episodes of gouty arthritis had developed. At the age of 18, proteinuria was pointed out. Hepatomegaly, renomegaly out of proportion to the impairment of renal function, hyperuricemia, hyperlipidemia, fasting hypoglycemia and lactic acidemia were observed. The diagnosis of GSD was established on the basis of a glucose tolerance test, glucagon test and liver biopsy. The findings of renal biopsies performed at the ages of 24 and 27 years old suggested that glomerular damage might have preceded the tubulo-interstitial lesion.
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PMID:Renal disease in an adult with type 1 glycogen storage disease. 203 36

Glucose production rates were measured in six patients with glycogen storage disease type 1 (five type 1A, one type 1B) using a primed continuous infusion of either [3-3H]glucose or [6,6-2H2]glucose. In four patients exogenous glucose was needed to maintain normoglycaemia. At blood glucose concentrations of 2.3-4.7 mmol/L, the endogenous glucose production rates were between 34 and 100% of that predicted for healthy subjects. No relationship was found between the blood glucose concentration and glucose production rates but there was a positive correlation between that of blood lactate and glucose production rate. The initial steady state was perturbed either by reducing the exogenous glucose infusion rate or by giving intravenous glucagon (20 micrograms/kg) or alanine (0.1-0.2 g/kg). Reducing the exogenous glucose infusion rate had little short term effect on glucose production rate. Intravenous glucagon increased the glucose production rate as well as blood glucose and lactate concentrations. A bolus of alanine (0.2 g/kg) given intravenously increased the glucose production rate and blood glucose concentrations but blood lactate concentrations fell. In four of the patients the studies were repeated under similar conditions and the glucose production rate was higher in all patients. We conclude that the glucose production rate is not fixed but varies with the prevailing metabolic status, a finding that has implications for the treatment of type 1 glycogen storage disease.
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PMID:Glucose production rates in type 1 glycogen storage disease. 211 51

A 31-year-old male patient with type Ia glycogen storage disease was admitted to our department complaining of general fatigue and right hypochondriac pain. He exhibited massive hepatomegaly with systemic hypoglycemia, lactic acidosis, hyperuricemia, hyperpyruvatemia and hyperlipemia. The failure of blood glucose levels to increase after a glucagon loading test, and a reduced lactate level on glucose tolerance test were also observed. Various imaging techniques suggested hepatic adenoma with hemorrhage in the tumor, which was confirmed histologically. There was a complete absence of glucose 6-phosphatase activity, as determined by an enzyme assay on resected liver specimens, which proved the case to be type Ia glycogen storage disease. We also reviewed all previously reported cases of hepatic tumor and glycogen storage diseases. We conclude that, since hepatic adenoma is not rare in this disease, and is complicated by hemorrhage, rupture and malignancy, careful follow-ups are necessary.
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PMID:A case of type Ia glycogen storage disease complicated by hepatic adenoma. 217 Feb 59

In the patients with glycogen storage disease (GSD) type VIa and different serum glucose response to glucagon, the activities of hepatic phosphorylase b kinase, phosphorylase a and b were estimated before and after the intravenous administration of glucagon. 3 min after the administration of glucagon an increase in the activities of phosphorylase b kinase and phosphorylase a was found in liver tissue of all patients except one. These enzymatic activities, however, did not exceed the values of these enzymes in the control liver biopsies without glucagon loading. After the intravenous administration of glucagon an unsuspected increase of phosphorylase b activity was observed in the control liver tissues and in patients with GSD type VIa, except one. In vitro investigations revealed that an increase of hepatic phosphorylase b activity occurs during its conversion to phosphorylase a. We suppose that this phosphorylase b represents a partially phosphorylated form of this enzyme (an intermediate form) that is due to the action of the active phosphorylase b kinase. The correlations between the activities of phosphorylase b kinase, phosphorylase a and an intermediate form of phosphorylase b and hepatic glycogen degradation after administration of glucagon has been discussed.
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PMID:The behavior of hepatic phosphorylase b kinase, phosphorylase a and b after administration of glucagon to patients with glycogen storage disease type VIa. 309 50

A 3-year-old child with glycogenosis due to hepatic phosphorylase kinase deficiency is described. His clinical presentation was unusually severe. Biochemical studies revealed a lack of hypoglycemia, the presence of marked ketosis and hyperlipidemia, and a normal glycemic response to glucagon and to loading with galactose, fructose, and alanine. The ketosis was reversed by glucagon administration. Changes in plasma concentrations of lactate, pyruvate, beta-OH butyrate, and alanine in response to glucagon, galactose, fructose, and alanine administration are reported. The child responded poorly to a high protein diet. His condition improved markedly with a high carbohydrate diet. The significance of the findings is discussed.
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PMID:Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency. 345 48

Large amounts of glycogen accumulate in rat skeletal muscle fibers during the late fetal stages and are mobilized in the first postnatal days. This glycogen depletion is relatively slow in the immature leg muscles, in which extensive deposits are still found 24 hr after birth and, to some extent, persist until the 3rd day. In the more differentiated psoas muscle and especially in the diaphragm, the glycogen stores are completely mobilized already during the early hours. Section of the sciatic nerve 3 days before birth or within the first 2 hr after delivery does not affect glycogen depletion in the leg muscles. Neonatal glycogenolysis in rat muscle fibers takes place largely by segregation and digestion of glycogen particles in autophagic vacuoles. These vacuoles: (a) are not seen in fetal muscle fibers or at later postnatal stages, but appear concomitantly with the process of glycogen depletion and disappear shortly afterwards; (b) are prematurely formed in skeletal muscles of fetuses at term treated with glucagon; (c) contain almost exclusively glycogen particles and no other recognizable cell constituents; (d) have a double or, more often, single limiting membrane and originate apparently from flattened sacs sequestering glycogen masses; (e) are generally found to contain reaction product in preparations incubated from demonstration of acid phosphatase activity. The findings emphasize the role of the lysosomal system in the physiological process of postnatal glycogen mobilization and appear relevant in the interpretation of type II glycogen storage disease.
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PMID:Autophagic degradation of glycogen in skeletal muscles of the newborn rat. 433

A girl presented with an important growth retardation, hepatomegaly, fasting hypoglycemia, lactic acidosis, increased serum cholesterol, triglycerides and uric acid, and increased liver glycogen (7.5%). There was no rise in blood glucose after IV galactose or fructose, but glucagon gave a delayed response. Type Ib glycogen storage disease was suggested by the low normal activity of glucose-6-phosphatase (G-6-Pase) which reached 1.8 units/g (normal, 2 to 10 units/g) and the normal activity of other glycogenolytic enzymes, measured in homogenates prepared in H2O (mean +/- S.E. in control subjects: 59% +/- 7; in type Ia GSD: 92% +/- 3). The activity of G-6-Pase measured as described above increased to 3.8 units/g of liver 1 year after PCS and 7.85 units/g of liver after 3 years. At that time, a simultaneous assay of the enzyme in a fresh, previously not frozen liver biopsy, homogenized in 0.25 M sucrose, revealed only about 29% of the activity of the same sample prepared in H2O (mean +/- S.E. in three controls: 95.8% +/- 8.9.
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PMID:Clinical and biochemical findings before and after portacaval shunt in a girl with type Ib glycogen storage disease. 625 80

The plasma glucose, insulin, glucagon, lactate and amino acid response patterns to glucose and protein meals were examined in 11 patients with type III glycogen storage disease (GSD-III). The amino acid metabolism in GSD-III was shown to differ from that observed in normal subjects and in type I glycogen storage disease (GSD-I) patients. The outstanding findings involved the principal gluconeogenic amino acid, alanine. Postabsorptive levels of alanine in GSD-III were significantly below those of normal controls. Following glucose ingestion, alanine rose markedly in GSD-III, which differed from normal subjects in whom no change occurred, and from GSD-I patients in whom a sharp fall was observed. Following beef ingestion, the direction of change of alanine was similar in the three groups, but the circulating levels in GSD-III were significantly less than those observed in GSD-I and normal controls. The possibility that gluconeogenesis is enhanced in GSD-III was supported by the prompt rise in blood glucose observed following beef ingestion, which differed from GSD-I and normal subjects, in which no rise in glucose was observed.
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PMID:Amino acid disturbances in type III glycogenosis: differences from type I glycogenosis. 633 17

Carbohydrate metabolism was studied in a child with atypical glycogen storage disease and Fanconi syndrome. Massive glucosuria, partial resistance to glucagon and abnormal responses to carbohydrate loads, mainly in the form of major impairment of galactose utilization were found, as reported in previous cases. Increased blood lactate to pyruvate ratios, observed in a few cases of idiopathic Fanconi syndrome, were not present. [1-14C]Galactose oxidation was normal in erythrocytes, but reduced in fresh minced liver tissue, despite normal activities of hepatic galactokinase, uridyltransferase, and UDP-glucose 4-epimerase in homogenates of frozen liver. These data suggest a defect in hepatic galactose metabolism not so far identified.
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PMID:Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome. 657 55

The biochemical and endocrine responses of 13 patients with hepatic glycogen storage disease (HGSD) (type I-six patients, type Ib-two, type III-three, type IX-two patients) to an oral glucose load have been investigated. Longitudinal growth data was available in all patients. The height velocity standard deviation score (HVSDS) was positively correlated with the plasma somatomedin and inversely correlated with the glucose-insulin ratio, plasma cortisol and plasma growth hormone concentrations. There was no correlation between plasma glucagon and HVSDS with treatment was accompanied by a rise in plasma somatomedin and a fall in growth hormone and cortisol. In two patients the glucose-insulin ratio decreased. Growth retardation in HGSD can be explained as part of the adaptation to the inability to maintain normal glucose homeostasis.
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PMID:Growth and endocrine changes in the hepatic glycogenoses. 674 5


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