Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: 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)

Chicks infected as 12-day-old embryos with an end-point purified derivative of avian myeloblastosis virus developed a rapidly progressive osteopetrosis that manifested within 1 week of hatching. A detailed comparison of osteopetrotic chicks and normal hatchmates revealed the following. (i) Osteopetrotic chicks exhibited a stunting syndrome, growing at a mean rate that was 26% of the control rats. (ii) At autopsy, the mass of the lymphoid organs was reduced, whereas the mass of the heart, pancreas, kidneys, lungs, brain, liver, and bones of osteopetrotic chicks was increased. Edema was likely responsible for most of the increase in organ weight. (iii) Infected chicks exhibited a normochromic, normocytic anemia that was virus dose dependent and was not required for the development of osteopetrosis. (iv) Bone collagen content was normal. (v) Osteopetrotic bone was initially hypomineralized, but later became more fully mineralized. (vi) The concentrations of alpha, beta, and gamma globulins in the plasma were elevated in osteopetrotic chicks, whereas albumin concentration was decreased. (vii) The level of plasma alkaline phosphatase was elevated in osteopetrotic chicks, yet the level of acid phosphatase was unchanged. (viii) Body and bone temperatures were unchanged.
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PMID:Biological characterization of avian osteopetrosis. 19 9

Van Buchem disease is a hereditary sclerosing dysplasia of bone. Both dominant and autosomal recessive modes of transmission have been described. The dominant form tends to be a benign disorder and symptoms are usually confined to those associated with the enlargement of the jaw. The recessive forms tend to have a greater morbidity and symptoms arise from pressure on cranial nerves by hyperostotic bone at the base of the skull. Patients of the dominant families have often had a torus palatinus. No haematological changes are found. The alkaline phosphatase may be raised--even if the total level is not elevated, the bone fraction may be increased. The radiological appearances are regarded as characteristic. The jaw is enlarged and thickened to an extent not seen in other bone dysplasias such as osteopetrosis. The cortices of the diaphyses are thickened and the medullary cavities are encroached upon but not obliterated. Abnormal modelling of the bone ends is not found in van Buchem disease. In long bones the distribution is predominantly diaphyseal but the bone ends are also affected.
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PMID:Van Buchem disease. 19 95

Five patients with nutritional osteomalacia or rickets and six children with rickets unresponsive to physiological doses of vitamin D were treated with 1alpha-hydroxyvitamin D3 (1alpha-OHD3). Patients with nutritional osteomalacia responded to 1--2 microgram/day of 1alpha-OHD3. The most striking findings were rises in plasma calcium and, in one case, a decrease in faecal calcium. In some cases there was a rise in plasma phosphorus, alkaline phosphatase remained unchanged. There was radiological healing. In three patients with cystinosis and one with hypophosphataemia and Barrter's syndrome 2 microgram of 1alpha-OHD3 produced healing of rickets. Plasma phosphate rose on treatment, possibly by a suppression of parathyroid activity. The response to such low doses of 1alpha-OHD3 suggests impaired 1alpha-hydroxylation of 25-hydroxyvitamin D in these patients. A patient with intestinal malabsorption was resistant to high doses of 1alpha-OHD3 by mouth but responded to parenteral administration. A boy with osteopetrosis and the biochemical changes of rickets was resistant to large doses of 1alpha-OHD3 presumably because of failure of osseous response.
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PMID:1alpha-hydroxyvitamin D3 in the treatment of nutritional and metabolic rickets and osteomalacia. 20 19

Indices of calcium and phosphorus metabolism were studied in 3 children with osteopetrosis before and after infusion of bovine parathyroid hormone extract. Basal plasma concentrations of calcium, alkaline phosphatase and 25-hydroxy vitamin D tended to be low. Plasma immunoreactive PTH levels were at the upper normal range in two patients. A marked increase in urinary cyclic AMP in all patients was solely due to an increase in the nephrogenous cAMP. After vitamin D treatment urinary cAMP was essentially unchanged with the same preponderance of nephrogenous cAMP. Following PTH infusion plasma cAMP showed a brisk rise. There was also a prompt rise in urinary cAMP and a distinct decrease in the calcium to sodium clearance ratio indicating increased calcium reabsorption. Phosphaturic effect was only observed when PTH was given in the highest dose level. The findings are consistent with a state of low grade hyperparathyroidism which could not be related to the plasma levels of 25-hydroxy vitamin D or calcium.
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PMID:Acute response of parathyroid hormone in congenital osteopetrosis. 23 56

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

A group of 16 infants, 2 weeks to 11 months old, with malignant osteopetrosis were investigated to examine their vitamin D metabolism and parathyroid function. Bone biopsies from 6 children were studied by light microscopic histomorphometry and by electron microscopy. Considerable heterogeneity existed among the patients with respect to the parameters reflecting mineral metabolism and with respect to the histological manifestations of the disease. The most constant findings were as follows. Immunoreactive parathyroid hormone (iPTH) was elevated in all children, except in 1 patient who had tubular acidosis, and plasma calcium was low or normal, suggesting skeletal resistance to PTH. Plasma 1,25-dihydroxyvitamin D [1,25-(OH)2D] was not constantly elevated and appeared to depend on plasma phosphorus, as both parameters were negatively correlated (r = 0.704, p less than 0.01). Osteoblast activity, as evaluated by circulating alkaline phosphatase and osteocalcin and osteoblast number, measured for 6 children by bone histology, were not increased, despite hyperparathyroidism, suggesting PTH resistance or defective osteoblasts. Osteoclasts could be detected in 5 of the 6 children who had a biopsy. Osteoclast number (5.7-13.3% of bone surface) was normal or mildly increased, and marrow spaces were relatively well developed in 4 patients, whereas 1 child had markedly increased osteoclast number (28.3% of bone surface) and reduced marrow cavities. These 5 children received transplants, and engraftment occurred in all, except in the "hyperosteoclastic" patient. Further studies are necessary to establish the prognostic significance of this histologic feature.
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PMID:Mineral metabolism in infants with malignant osteopetrosis: heterogeneity in plasma 1,25-dihydroxyvitamin D levels and bone histology. 154 52

The case records of 10 children with osteopetrosis are reviewed. The mean age at presentation was 4 years. Parental consanguinity was noted in all the families. Growth retardation was the commonest presenting complaint. All the children had severe dental caries. Routine metabolic studies for calcium, phosphorus and alkaline phosphatase were unremarkable. The literature on the management of this entity is briefly discussed.
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PMID:Osteopetrosis in Saudi children: a report of 10 cases. 245 27

Newborn female strain NMRI mice were injected with a mouse retrovirus (OA MuLV) known to induce osteopetrosis. Primary skeletoblast cell cultures were established from humeri and calvaria of 3-day-old, 7-day-old, and 28-day-old animals. Infectious ecotropic MuLV was found in all humerus cultures from infected animals and in 7-day and 28-day calvaria cell cultures. Levels of alkaline phosphatase activity were markedly higher in cultures of calvaria and humeri from infected mice than in those from controls. In vitro infection of undifferentiated periosteal cells was followed by a decrease in cell growth and an increase in alkaline phosphatase activity. In contrast, differentiated osteoblast-like cells were barely susceptible to OA MuLV infection, and the virus did not influence their cell growth or differentiation. Electron-microscopic studies of skeletal tissue from infected old osteopetrotic mice showed virus particles associated with and budding from osteocytes and accumulated in devitalized osteocyte lacunae. The results indicate that progenitor cells of the osteoblastic lineage represent the target cells for OA MuLV in bone tissue, that virus infection induces an increase in osteoblastic activity, and that infected cells produce virus until full development of the disease.
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PMID:Retrovirus-induced osteopetrosis in mice. Effects of viral infection on osteogenic differentiation in skeletoblast cell cultures. 282 89

Effects of aflatoxin B1 and T-2 toxin, administered daily within 7 days at the doses of 0.7 mg/kg and 0.54 mg/kg, respectively, on metabolism of Ca and on the vitamin D hormonal system were studied in young rats kept on a ration containing normal (0.025 mg/kg) and high (0.25 mg/kg) amounts of vitamin D. Administration of the mycotoxins caused hypocalcemia, a decrease in absorption of Ca as well as in activity of alkaline phosphatase in small intestine mucose, while alterations in spongy bones (of the type of osteopetrosis) were most distinct in T-2 toxin treatment. Concentration of 25(OH)D3 in blood serum and activity of 25-hydroxylase D3 in liver tissue were decreased by 28% and 58%, respectively, after administration of T-2 toxin, and by 34% nd 33%, respectively, after treatment with aflatoxin B1. In kidney activity of I-hydroxylase 25(OH)D3 was unaltered and the activity of 24-hydroxylase tended to decrease. After treatment with the mycotoxins content of nuclear receptors of 1,25(OH)2D3 was decreased in small intestine mucose, whereas cytoplasmic receptors were increased 2.5-fold, thus indicating the distinct decrease in the receptors internalization. High doses of vitamin D caused an increase of Ca content in blood serum and of its absorption in small intestine as well as normalized Ca content in cortical bone of rats treated with T-2 toxin. At the same time, activity of 1-hydroxylase 26(OH)D3 was increased in liver tissue, while concentration of 1,25(OH)2D3 receptors was reduced in small intestine, but internalization of the hormone receptors was maintained at low level.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Effect of mycotoxins aflatoxin B1 and T-2 toxin on the vitamin D3 metabolism and binding of its hormonal form 1,25-dihydroxyvitamin D3 in rats]. 284 63

Biochemical markers of bone resorption and bone formation were measured in 14 patients with autosomal dominant osteopetrosis, and compared with age- and sex-matched controls. There were eight patients with the radiological type I characterized by diffuse, symmetrical osteosclerosis with pronounced sclerosis of the skull and enlarged thickness of the cranial vault, and six patients with type II characterized by diffuse, symmetrical osteosclerosis, "Rugger-Jersey spine" and "endobones" (bone within a bone) in the pelvis. Serum levels of alkaline phosphatase and osteocalcin in types I and II did not differ from controls indicating normal bone formation. However, a significantly decreased fasting renal excretion of phosphate and hydroxyproline in both types compared with normal controls, suggests a reduced bone resorption. Serum levels of parathyroid hormone (PTH), albumin-corrected calcium, phosphate, and acid phosphatase were normal in type I. In type II serum levels of albumin-corrected calcium and PTH were significantly increased (p less than 0.05 and p less than 0.01). The level of acid phosphatase was markedly increased in this type (p less than 0.01). These findings suggest differences between the two types in calcium homeostasis and bone metabolism, and thus corroborate the evidence that the two radiological types reflect two different disorders of bone resorption.
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PMID:Biochemical evidence of disturbed bone metabolism and calcium homeostasis in two types of autosomal dominant osteopetrosis. 326 47


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