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)

A male born to first cousins presented at 12 months with hypocalcemic convulsions, rickets, epistaxis due to vitamin K deficiency, and extremely low serum levels of beta-carotene and vitamin A. Liver function was altered moderately (glutamic-oxaloacetic transaminase, 55 U/L; glutamic-pyruvic transaminase, 37 U/L; lactate dehydrogenase, 255 U/L; alkaline phosphatase, 437 U/L). To correct the deficiencies, 8,000 IU vitamin D/day, 10,000 IU vitamin A/day, and intramuscular administration of vitamin K1 were required. At 9 years, he presented signs of neuromuscular affection, and the serum vitamin E level (measured for the first time) was extremely low. Classic lipid malabsorption syndromes (abetalipoproteinemia, chronic cholestasis, mucoviscidosis, coeliac disease, Whipple's disease) were excluded by appropriate examinations. Composition of duodenal bile acids was characterized by undetectable levels of cholic acid metabolites, and only chenodeoxycholic acid metabolites were present. Serum total bile acid concentration was normal, with an atypical low cholic acid/chenodeoxycholic acid ratio and abnormal presence of 3 beta-OH-delta 5-cholenic acid and 6-OH-bile acids. Urinary bile acid composition was also characterized by elevated 6-OH-bile acids. Known enzymopathies of the bile acid synthetic pathway were excluded (cerebrotendinous xanthomatosis, cerebro-hepato-renal syndrome of Zellweger, coprostanic acidemia). Bile acid pool sizes were determined by using stable isotopes: cholic acid pool size [2.90 (N, 32 +/- 16) microM/kg] and chenodeoxycholic acid pool size [10.8 (N, 32.6 +/- 9.9) microM/kg] were extremely low; fractional turnover rates of both bile acids were in a normal range.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Malabsorption of liposoluble vitamins in a child with bile acid deficiency. 379 31

Meconium ileus was the presenting feature of cystic fibrosis in 46 per cent of the couples which have been referred for prenatal diagnosis. In fetuses which have been aborted on the basis of alkaline phosphatase isoenzymes assays, meconium ileus represented the only pathological feature of cystic fibrosis, and was observed in three fourths of the cases. Real-time sonographic examination of fetuses at the time of amniocentesis was able to show an echogenic mass in the abdomen corresponding to the meconium ileus, and thus may afford a complementary means of diagnosis.
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PMID:Prenatal diagnosis of cystic fibrosis. II. Meconium ileus in affected fetuses. 388 58

Twelve patients who underwent 26 episodes of lower respiratory tract infection due to Pseudomonas aeruginosa were treated with aztreonam. Infectious episodes were severe in 11 patients, moderate in 10 patients, and mild in five patients. In 85% of the episodes, significant clinical improvement occurred, but in four severe episodes, the clinical response was unsatisfactory. The mean interval between initiation of treatment and improvement was seven days. Aztreonam was as clinically effective in the treatment of infections due to organisms susceptible to penicillins active against Pseudomonas as it was in the treatment of infections due to organisms resistant to these agents. P. aeruginosa was not permanently eradicated from the sputum of any of the patients treated with aztreonam. It did not cause any major adverse effects, and the only laboratory abnormality found was an increase in alkaline phosphatase, which occurred during 12 (46%) courses of therapy. Levels of alkaline phosphatase returned to normal after conclusion of treatment. Aztreonam was shown to be clinically effective in the treatment of lower respiratory infections due to P. aeruginosa in patients with cystic fibrosis.
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PMID:Treatment of lower respiratory tract infections due to Pseudomonas aeruginosa in patients with cystic fibrosis. 390 22

This study reports serum 25-hydroxy vitamin D (25-(OH)D) levels, bone mineral content and bone maturation in 20 adolescent and adult patients with cystic fibrosis, and their response to the internationally recommended dose of supplementary vitamin D (800 iu/day; 20 micrograms/day). Serum 25-(OH)D values were below normal in 75 per cent of patients and serum alkaline phosphatase values, corrected for age, were increased in 60 per cent. Bone mineral content, measured by photon beam absorptiometry, was below the normal range in 45 per cent of patients and bone age retarded in 45 per cent. Following supplementation with vitamin D 40 per cent of patients failed to achieve normal serum 25-(OH)D levels. We concluded that hypovitaminosis D occurs frequently in older patients with cystic fibrosis and is accompanied by osteopenia and retarded bone maturation.
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PMID:Hypovitaminosis D and response to supplementation in older patients with cystic fibrosis. 409 49

Second-trimester amniotic fluid contains two major alkaline phosphatase (ALP) isoenzymes, one susceptible to inhibition by phenylalanine and the other to inhibition by homoarginine. The proportions of these isoenzymes are constant between 15 and 21 weeks of gestation. In pregnancies where the fetus has cystic fibrosis there is a profound deficiency of the phenylalanine-inhibitable form which is thought to be derived mainly from mucosal cells of the fetal intestine. When phenylalanine and homoarginine were used to define ALP isoenzymes in stored amniotic fluids, 9 of 10 cases of cystic fibrosis were identified, while only 9 of 831 control fluids were scored as false positives. In pregnancies where there is an a priori risk of 1:3 (one or more previous affected children) a positive test indicates a 28:1 risk of cystic fibrosis in the fetus. This method is likely to prove satisfactory for the early prenatal diagnosis of cystic fibrosis.
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PMID:Amniotic fluid alkaline phosphatase isoenzymes in early prenatal diagnosis of cystic fibrosis. 613 5

Measurement of the microvillar enzymes, gamma-glutamyltranspeptidase (GGTP), aminopeptidase M (APM) and alkaline phosphatase (ALP), in amniotic fluid supernatant has been proposed as a method for the early prenatal diagnosis of cystic fibrosis. The activities of these enzymes in a series of other fetal abnormalities have now been examined. GGTP activities were below the 5th percentile in 28 out of 54 cases of trisomy 21 and 9 of 14 cases of trisomy 18, while APM values were below this cut-off in 26 of 54 cases of trisomy 21 and 8 of 14 cases of trisomy 18. Abnormal ALP isoenzyme ratios were found in 6 of 54 cases of trisomy 21 and 4 of 14 cases of trisomy 18. If prenatal cytogenetic studies are routinely carried out on amniotic fluid cells, the occasional confounding effect of abnormal microvillar enzymes associated with fetal trisomies rather than with cystic fibrosis should be avoided.
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PMID:Amniotic fluid microvillar enzyme activities in the early detection of fetal abnormalities. 614 50

Prenatal diagnosis of cystic fibrosis (CF) has been made possible by the finding that the activity of various enzymes derived from the microvillar membranes of the fetus is decreased in 2nd trimester amniotic fluid. Gamma-glutamyl transpeptidase, aminopeptidase M and the phenylalanine-inhibitable form of alkaline phosphatase (AP) have been found to be of most diagnostic use in this respect, the odds of the fetus being affected with CF being 28:1 if the AP test is positive. When couples have already had a child with CF, pregnancies are being monitored by these methods at the University of Cape Town.
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PMID:Prenatal diagnosis of cystic fibrosis in South Africa. 614 25

The diagnosis of cystic fibrosis (CF) homozygotes and heterozygotes and of individuals without the CF gene, based on differences in the thermal stability of acid phosphatase and alpha-mannosidase, is reported. The residual activities at 36.5 degrees C and 41.3 degrees C were below 10% of the activity in unheated samples for homozygotes, 40-50% for heterozygotes and above 90% for normals. The intracellular alkaline phosphatase and extracellular beta-hexosaminidase activities after treatment with heparin and gammaglobulin were 500% and 200%, respectively, of the activities without this treatment in CF homozygotes, whereas for heterozygotes and normals the values were the same after treatment as before. Pedigrees of four CF families, covering 2-3 generations, are presented. The possible use of these tests as diagnostic tools is further discussed.
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PMID:Diagnosis of cystic fibrosis homozygotes and heterozygotes from plasma and fibroblast cultures. A three-generation family study. 622 36

A monoclonal antibody (AAP-1), specific for the intestinal isoenzyme of alkaline phosphatase (ALP), has been used to develop an immunoassay for amniotic fluid samples. Values in the immunoassay correlated closely with those obtained by direct determination of phenylalanine-inhibitable ALP. A panel of 124 control second-trimester amniotic fluids and 21 fluids with a 1 in 4 risk of a cystic fibrosis fetus were examined in the immunoassay. Eight of 10 affected cases had values below an arbitrary cut-off of one third median, while all the non-affected cases were above this level. Almost identical results were obtained by enzymatic determination of phenylalanine-inhibitable ALP. However, in both systems the false positive rate (control fluids with values below one third median), was unacceptably high. It is pointed out that at present the most effective system for the prenatal diagnosis of cystic fibrosis is achieved by measuring the ratio of intestinal to total ALP in amniotic fluid supernatants. This is probably best effected by enzymatic assay in the presence of phenylalanine and homoarginine inhibition.
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PMID:Prenatal diagnosis of cystic fibrosis using a monoclonal antibody specific for intestinal alkaline phosphatase. 652 47

In 62 patients with cystic fibrosis the serum vitamin B12 concentration ranged from 160-2600 pmol/l with a mean of 1 105 pmol/l. Both vitamin B12-binding proteins in the serum, transcobalamin II and R-binders, carried increased amounts of vitamin B12, but showed relatively normal levels of unsaturated vitamin B12-binding capacity. This combination is rather typical for hepatic dysfunction, although the recurrent pulmonary infections might exert an upward effect on plasma R-binder concentration through increased turnover of myeloid cells. A significant positive correlation between transcobalamin II-vitamin B12 and serum alkaline phosphatase suggests that transcobalamin II-bound vitamin B12 might be an early indicator of focal biliary cirrhosis, which is known to occur in these patients.
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PMID:Elevated serum vitamin B12 in cystic fibrosis. 652 65


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