Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.1.3.1 (alkaline phosphatase)
 47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical and biochemical features of four adults with Engelmann's disease (Camurati-Engelmann disease; progressive diaphyseal dysplasia) are presented. One young patient, with a particularly severe form of the disease, is discussed in detail. Biochemical abnormalities were found in three of the patients. In two of them, one with localized hyperostosis and one with generalized bone disease, the only changes were an increase in the plasma alkaline phosphatase and urinary total hydroxyproline excretion. The most severely affected patients, who had had progressive and generalized bone disease from age two and a half years, also had persistent hypocalcaemia and hyperphosphataemia, a positive calcium balance, and a very low urine calcium excretion. It is suggested that some patients with Engelmann's disease may have a previously unrecognized metabolic disorder associated with increased retention of calcium and excessive bone formation. The possible role of abnormal phosphate metabolism in this increased formation of bone, and the relationship of Engelmann's disease to other hyperostoses, are discussed.
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PMID:Clinical and biochemical studies in Engelmann's disease (progressive diaphyseal dysplasia). 86 79

Two distinct and characteristic cases of osteopetrosis are presented. The first concerns a fourth month old baby with the malignant form of the disease, initiated since the newborn period. He was admitted because of abnormal ocular movements and probably deafness. At the physical examination he showed bilateral optic atrophy, abnormal ocular movements, hepatosplenomegaly and petechia. The diagnosis was confirmed by clinical means and radiological studies of virtually all of his skeleton. Several fractures were found. Laboratory tests showed marked anemia, trombocytopenia "tear cells", evidence of medullary erythropoiesis and myelofibrosis. An increased alkaline phosphatase was detected in serum and in granulocytes. The second case corresponds to a 26 year-old female with the benign form of the disease. She had multiple pathological fractures specially of her lower limbs, that produced severe impotence in her gait. In this case, the diagnosis is suspected on clinical basis and confirmed with the characteristic radiological findings. Some of the more distinct features of the disease are discussed, specially those concerning the genetic mode of inheritance and consanguinity, the etiopathogenic, pathophysiology, clinical, laboratory, prognosis and treatment, with particular reference to the radiological and hematologic problems related with this metabolic disorder.
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PMID:[Osteopetrosis (report of 2 cases)]. 91 41

The pig shows a marked response to end-to-side portacaval shunt. Survival is short and levels of alkaline phosphatase and cholesterol fall. This study was designed to determine the role of the reduced food intake which follows the operation upon these results. In pair-fed, sham-operated pigs, survival was short and levels of alkaline phosphatase and cholesterol also fell. Sham-operated animals fed normally did not show this response. Reduced appetite has been recorded in many experimental animals after portacaval shunt, but the cause remains to be elucidated. Encephalopathy, bacteremia, peptic ulceration, or hormonal imbalance could be implicated. Similar alteration in appetite and weight loss have not been observed in children who have been treated by portacaval shunt for glycogen storage disease or hypercholesterolemia; however, the underlying metabolic disorder or the species difference may be a contributory cause.
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PMID:Anorexia and weight loss in the portacaval-shunted pig. 106 35

Hyperlipoproteinaemia may represent a high risk factor in the pathogenesis of atherosclerosis, especially for the coronary heart disease. This metabolic disorder should therefore be treated. Strict diet is the basis of the treatment. In case the lipoprotein level does not normalize by means of diet, medicamentous therapy ought to be applied in addition. A total of 269 individuals suffering from hyperlipoproteinaemia have been treated in this study. According to Fredrickson there were 35 with Type IIa, 134 with Type IIb, 32 with Type IV and 68 with Type V. All of them had been previously treated with diet for at least three months. Afterwards, they were treated with fenofibrate (Katalip) in a dosage of 100 mg, 2 capsules in the morning and 1 in the evening. Biochemical parameters were checked a month after start of therapy. Cholesterol (-20%, -17%, -114%, -224%), triglycerides (-31%, -37%, -47%, -704), LDL cholesterol (-23%, -19%, -11% no significant, -31%), VLDL cholesterol (-25%, -29%, -32%, -59%), atherosclerosis index (-27%, -28%, -28%, -55%), urea (-5% no significant, -21%, -22%, -28%), gamma GT (-23%, -25%, -15% no significant, -39%) of patients with Type IIa, IIb, IV and V have decreased significantly (P less than 0.05), whereas the value of HDL cholesterol increased (0% no significant, +20%, +12%, +29%). No statistically significant changes during the therapy were observed in alkaline phosphatase (-8%, -9%, -11%, -10%), SGOT (-3%, -8%, +5%, -15%), SGPT (-22%, +4%, -18%, -15%) and glucose (-17% significant, -5%, -7%, -10%). Fenofibrate decreases the risk of the development of atherosclerosis by lowering lipoproteins and uric acid level.
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PMID:[The effect of fenofibrate in various types of hyperlipoproteinemias]. 274 11

Excessive fat accumulation in the liver is a common metabolic disorder seen in humans and animals. Fatty liver was induced in the rat by feeding the animals with a sucrose rich diet containing 1% orotic acid for 2-3 weeks. In the sera from fatty liver rats there were significant changes in the level of alanine aminotransferase (+ 68.7%), malic dehydrogenase (+ 77.8%), gamma-glutamyl transpeptidase (- 53.4%) and total lipids (+ 26.6%). There were small to no changes in the levels of aspartate aminotransferase, glucose-6-phosphate dehydrogenase, lactic dehydrogenase, aldolase, malic enzyme, 6-phosphogluconic acid dehydrogenase, alkaline phosphatase and albumin. In fatty liver, significant differences were seen in the levels of glucose 6-phosphate dehydrogenase (+ 235%), malic enzyme (+ 170%), gamma-glutamyl transpeptidase (+ 113%), 6-phosphogluconate dehydrogenase (+ 63%), aspartate aminotransferase (+ 35.6%), malic dehydrogenase (+ 38%), lactic dehydrogenase (+ 37%), and alanine aminotransferase (- 23%). Comparison of the non-fatty part with the fatty part of the fatty liver showed larger changes in the non-fatty part of the liver, suggesting that during the fattening process, there is an induction of enzymes in the liver reaching a peak prior to lipid accumulation, declining thereafter during liver fattening. The increase in NADPH-generating lipogenic enzymes suggests that accumulated fat in the liver is at least partially from de-novo increased synthesis in the liver.
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PMID:Biochemical changes in liver and blood during liver fattening in rats. 377 7

Hypophosphatasia, an inheritable metabolic disorder affecting calcification, has been shown to have various oral manifestations. Recently, it was suggested that it may serve as a predisposing factor in the pathogenesis of early-onset periodontitis. The present study was designed to examine the frequency of hypophosphatasia among patients with juvenile periodontitis and rapidly progressive periodontitis. Eighteen patients, nine females and nine males (age 19-37 years, mean 23.2 years), were included in this study. Venous blood and urinary samples were collected and assayed for alkaline phosphatase and urinary phosphoethanolamine. Mean alkaline phosphatase levels (109 +/- 35 IU/L) were within the normal limits for all patients except one who exhibited slightly lower than normal values. Urinary phosphoethanolamine, a typical marker of hypophosphatasia, was absent from all specimens, which rules out the possible diagnosis of such disorder in these patients. Until more information is available, the role of hypophosphatasia as a predisposing factor in early-onset periodontitis is yet to be established.
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PMID:Lack of evidence for hypophosphatasia as a factor in the pathogenesis of early-onset periodontitis. 853 Dec 51

Hypophosphatasia is an inborn metabolic disorder in which abnormally low levels of the enzyme nonspecific alkaline phosphatase result in defective skeletal and dental mineralization (rickets, fractures, dental abnormalities) and in accumulation of the enzyme substrates (phosphoethanolamine, pyridoxal-5'phosphate and inorganic pyrophosphate). The build-up of inorganic pyrophosphate promotes the development of articular chondrocalcinosis. There are several forms of hypophosphatasia, with wide variations in severity. We report the case of a 53-year-old man with typical manifestations of moderate adulthood hypophosphatasia. Investigations in his family found the disease in a sister and two children. He had two autosomal mutations, which were transmitted recessively. Several mutations of the alkaline phosphatase gene have been identified. The genotype is correlated with the phenotype: some mutations are associated with milder forms and others with more severe forms of the disease.
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PMID:Adult hypophosphatasia. Current aspects. 1132 27

Type 2 diabetes mellitus is a complex metabolic disorder with adverse cardiovascular risk. The role of micronutrients has not yet been well clarified in this condition, especially in India.THE OBJECTIVES OF THIS STUDY WERE TO: (1) evaluate chromium status in Indian subjects with type 2 diabetes mellitus, (2) assess the effect of chromium picolinate (200 &mgr;g trivalent chromium twice daily) administration on glycaemic control and lipid profile in these subjects and (3) comment on the possible mechanism of any beneficial effect noted above.Fifty subjects were studied in a double blind, placebo-controlled, crossover fashion, with each treatment arm (chromium/placebo) lasting 12 weeks and 4 weeks' wash-off period in between. 50 healthy age- and sex-matched volunteers served as controls. Serum chromium level appeared to be higher in the general population in our country compared to western countries (36.5-59.5 nmol/L as compared to 2.3-40.3 nmol/L) However, the local diabetics were found to have a lower serum chromium level than the healthy controls (32.3 nmol/L against 44.7 nmol/L; p < 0.0001) and a mean increase of 3.5 nmol/L was noted after 12 weeks of chromium supplementation that was, expectedly, not seen in the placebo phase (p < 0.0001).Significant improvement in glycaemic control was noted in the chromium-treated group (DeltaFasting serum glucose = 0.44 mmol/L, p < 0.001; DeltaPost-prandial serum glucose = 1.97 mmol/L, p < 0.001; Deltaglycated hemoglobin = 0.01; p = 0.04, in comparison to placebo) This was accompanied by a significant greater fall in fasting serum insulin in the chromium-treated group, p < 0.05.The change in lipid parameters (total serum cholesterol, high density lipoprotein cholesterol, low density lipoprotein cholesterol and triglycerides) did not show significant difference between the chromium and placebo groups.Clinically significant hematological, renal or hepatic toxicity were excluded by routine hemogram, serum urea, creatinine, alanine amino transferase (ALT) and alkaline phosphatase estimations.In conclusion, chromium supplementation seems to improve glycaemic control in type 2 diabetic patients, which appears to be due to an increase in insulin action rather than stimulation of insulin secretion.
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PMID:Role of chromium supplementation in Indians with type 2 diabetes mellitus. 1255 67

Diabetes mellitus is the most common and serious metabolic disorder among people all over the world. Many plants have successfully been used to overcome this problem. Costus speciosus is widely used in Indian medicine to treat various diseases including diabetes. Bioassay guided fractionation was followed to isolate costunolide from the hexane extract of C. speciosus root. The structure was elucidated using X-ray crystallography. Costunolide was administered to streptozotocin (STZ) (50 mg/kg bw)-induced diabetic male wistar rats at different doses (5, 10, 20 mg/kg bw) for 30 days to assess its effect on fasting plasma glucose and cholesterol levels. It was found that plasma glucose was significantly (p<0.05) reduced in a dose-dependent manner when compared to the control. In addition, oral administration of costunolide (20 mg/kg bw) significantly decreased glycosylated hemoglobin (HbA(1c)), serum total cholesterol, triglyceride, LDL cholesterol and at the same time markedly increased plasma insulin, tissue glycogen, HDL cholesterol and serum protein. Also costunolide restored the altered plasma enzyme (aspartate aminotransferase, alanine aminotrasferase, lactate dehydrogenase, alkaline phosphatase and acid phosphatase) levels to near normal. Costunolide might have stimulated the beta islets to secrete insulin by inhibiting the expression of nitric oxide synthase. The results of this experimental study indicated that costunolide possessed normo-glycemic and hypolipidemic activity and hence it could be used as a drug for treating diabetes.
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PMID:Normo-glycemic and hypolipidemic effect of costunolide isolated from Costus speciosus (Koen ex. Retz.)Sm. in streptozotocin-induced diabetic rats. 1900 66

Hypophosphatasia is a rare genetic metabolic disorder characterised by defective bone mineralisation secondary to serum and bone alkaline phosphatase deficiency. We report a 46-year-old woman who underwent multiple intramedullary nailings for fractures and deformities of 6 long bones over 13 years.
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PMID:Intramedullary nailing for adult hypophosphatasia: a case report. 1912 13


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