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

Hypophosphatasia in adults is rare. Two elderly sisters presenting with pathological fractures of the femur are reported to illustrate the difficulties in orthopaedic management of this disease. All patients with a history of repeated fractures, especially from minor trauma and with generalised radiological bony abnormality, should be screened for this rare disease. A consistently low level of serum alkaline phosphatase with the presence of phosphoethanolamine in the urine is diagnostic.
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PMID:Orthopaedic problems in adult hypophosphatasia: a report of two cases. 42 40

The case is reported of a 29-year-old previously healthy female patient who developed the typical clinical picture of scurvy eight months after changing to a diet exclusively containing cooked cereals. Serum levels of B12, folic acid, and calcium were lowered and the alkaline phosphatase was slightly raised due to the dietary lack of vitamins A, D, B12 and folic acid. No clinical signs of these deficiencies could be observed. Addition of vitamin C to this diet resulted in complete cure in a matter of days. Signs and symptoms of scurvy are discussed in the light of the recent literature. This rare disease is particularly worth considering if one of the following situations is encountered: hemorrhages in the skin, muscles, joints or mucous membranes without apparent cause; therapy-resistant ulcers of mucous membranes in elderly patients; Sicca syndrome and/or wounds exhibiting poor healing.
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PMID:[Scurvy in an adult]. 91 80

Hepatoma is a rare disease in Natal Indians. It occurs in male patients in the fifth decade. They have no history of alcohol intake. The main presenting feature is abdominal pain, weight loss and hepatomegaly. Blood tests reveal a raised alkaline phosphatase, hypoalbuminaemia, hypergammaglobulinaemia and markedly raised gamma glutamyl transferase. The tumour is a single large expanding mass in the right lobe. The patient usually presents in a late stage of the illness and shows a progressive downhill course. Hepatitis B virus infection is emerging as the likeliest carcinogen.
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PMID:Hepatocellular carcinoma in South African Indians resident in Natal. 198

A male patient, aged 78, was found with chronic neutrophilic leukemia (CNL). The patient showed sustained mature neutrophilic leukocytosis, splenomegaly, a high leukocyte alkaline phosphatase score, elevated serum vitamin B12 and uric acid, myeloid hyperplasia and absence of ph' chromosome in the bone marrow, with no evidence suggesting this condition to be a leukemoid reaction to an underlying disease. In addition to the above mentioned features, some functional characteristics of CNL cells were compared with normal cells. CNL is a very rare disease; some thought it as a variant of chronic myelogenous leukemia (CML). In this report a review of the literature is also included.
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PMID:Chronic neutrophilic leukemia--report of a case and review of the literature. 217 62

The serum concentration of parathormone is usually normal in hypophosphatasia, a rare disease with a defect of bone mineralisation and low serum alkaline phosphatase activity. Nevertheless there are three cases in the literature presenting a hyperparathyroidism with or without hypercalcemia. No anomaly of parathyroid was found at autopsy. The authors describe the first cases of hypophosphatasia with low serum concentration of parathormone and raise the possibility of a trouble in the calcium-parathormone feed-back. They also emphasize the interest of the urinary pyrophosphate excretion. Its increase seem to be the most constant and the most specific biological disorder.
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PMID:[Inorganic pyrophosphates and parathormone in hypophosphatasia. Study of a family]. 300 10

1. Hypophosphatasia is a disorder characterized by low serum levels of alkaline phosphatase (ALP) and a range of skeletal deformities. The levels of a number of phosphorylated metabolites, namely phosphoethanolamine and pyrophosphate, are characteristically raised. Levels of pyridoxal-5'-phosphate (PLP) have also been reported to be raised. 2. Hypophosphatasia is a rare disease and experience of measuring PLP in patients is lacking. We have had the chance to look at PLP levels in four families with hypophosphatasia, specifically to examine the quantitative relationship between ALP and PLP which has not been described before. 3. We confirmed that PLP levels are raised in hypophosphatasia and related to the disease severity. A significant negative linear relationship was found between the log PLP and log ALP (log PLP = 5.99-2.76 log ALP; r = -0.85, P < 0.001). 4. Measurement of PLP is simpler than some of the phosphorylated compounds, e.g. pyrophosphate. PLP may be a useful measure in patients with a suspected diagnosis of hypophosphatasia or for screening family members to detect potential heterozygotes and to monitor any response to therapy. 5. There did not appear to be any adverse clinical effects in relation to disturbed vitamin B6 metabolism in hypophosphatasia. 6. Vitamin B6 is used therapeutically in a number of conditions with monitoring of PLP levels. In these conditions PLP levels should be interpreted in conjunction with the prevailing serum ALP levels as the metabolism of these compounds is closely inter-related.
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PMID:Relationship between serum alkaline phosphatase and pyridoxal-5'-phosphate levels in hypophosphatasia. 953 30

Primary sclerosing cholangitis (PSC) is a rare disease in Taiwan and has not been described in Taiwanese children previously. We report a 4-year-old girl who presented with prolonged fever, eosinophilia (11%), hepatomegaly, and markedly elevated serum levels of alkaline phosphatase (3,318 IU/L) and gamma-glutamyl transpeptidase (475 IU/L). Subsequent investigations including endoscopic retrograde cholangiopancreatography and liver histology confirmed the diagnosis fo PSC. Treatment with a low dose of prednisolone for 2 months and ursodeoxycholic acid during 32 months of follow-up resulted in clinical remission and halted disease progression. A high index of suspicion is necessary for physicians to diagnose this disorder in children with chronic liver disease. Our experience in this case indicates that therapy with prednisolone and ursodeoxycholic acid may be helpful for the treatment of PSC in children, and suggests the need for more trials of combined therapy.
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PMID:Primary sclerosing cholangitis in a child. 1036 42

Hypophosphatasia is a rare disease characterized by low serum levels of tissue non-specific alkaline phosphatase (TNSALP) and a spectrum of skeletal disease varying from the severest form with death in utero to mild with no clinical abnormality in adults. Currently, the diagnosis of hypophosphatasia is made on the basis of clinical findings, radiography, low serum alkaline phosphatase levels and raised abnormal phosphorylated metabolites; there are elevations in serum pyridoxal 5'-phosphate, urinary phosphoethanolamine and inorganic pyrophosphate. In borderline cases the biochemical diagnosis remains uncertain. Prenatally, diagnosis is made using radiography and ultrasonography together with chorionic villus tissue biopsy, in which TNSALP levels are measured using an antibody-based assay. Since hypophosphatasia results from mutations in the TNSALP gene we have, for the first time in two U.K. families, undertaken restriction fragment length polymorphism (RFLP) analysis using three intragenic RFLPs for BclI and MspI at the ALPL locus. One family was informative, and a mutant-allele-specific haplotype with respect to three RFLPs was defined. In the other family the disease was shown to segregate with one allele of the BclI RFLP, but the MspI RFLPs were not informative. The disease segregated in the two families with different alleles of the BclI RFLP, suggesting that the mutations are likely to be different. We confirm that DNA analysis is likely to be the way ahead for diagnosing hypophosphatasia, and that standardized screening methods need to be developed for detecting mutations in these and other families.
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PMID:Hypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited adult form. 1036 96

A 66-year-old man affected by polyostotic form of fibrous dysplasia in consequence of worsening of lower extremity bone pain aggravated by walking and concomitant increase of serum alkaline phosphatase and osteocalcin, was subjected first to a radionuclide study. Bone scan demonstrated a pathological uptake of the radiotracer in the craniofacial bones, right scapula, left and right posterior ribs, right hemipelvis and lower extremities confirming the diagnosis but establishing especially the extent of bone involvement, greater than expected on the basis of symptoms and X-ray findings, underlying the importance of nuclear medicine imaging in the assessment and follow-up of this rare disease.
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PMID:A rare case of polyostotic fibrous dysplasia assessed by bone scintigraphy with Tc-99m methylene diphosphonate (MDP). 1048 86

Biliary papillomatosis is a rare disease with strong potential for malignant degeneration. Diagnosis is often not easy and most are made intraoperatively. In the present study, five patients with biliary papillomatosis admitted between 1990 and 1997 were reviewed. Their clinical presentation, radiological and biochemical findings were analysed. The aim of the study was to discern a set of characteristic features that would enable an early diagnosis. All of the five patients presented with recurrent episodes of acute cholangitis and epigastric pain with raised serum alkaline phosphatase. Imaging modalities including ultrasound, CT, endoscopic retrograde cholangio-pancreatogram, MRI and magnetic resonance cholangio-pancreatogram were reviewed. Salient imaging features included a dilated biliary tree with multiple ill-defined and fuzzy filling defects or endoluminal frond-like mass lesions. In conclusion, biliary papillomatosis is a rare but important cause of biliary obstruction with relapsing cholangitis and obstructive jaundice. With a healthy index of suspicion, the diagnosis can be reached when the above features are available.
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PMID:Clinical and radiological features of biliary papillomatosis. 1084 79


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