Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0005940 (bone disease)
 7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This modified lectin affinity electrophoresis method is suitable for simultaneous measurement of liver, bone, and high-molecular-mass (high-Mr) isoforms of alkaline phosphatase (ALP; EC 3.1.3.1) in children. Age-related isoform reference ranges were derived for 247 children, ages 0-13 years. Liver ALP did not appear in plasma until after six months of age, and remained constant after one year of age. Bone ALP was highest in the youngest age group, and declined to relatively constant activities thereafter. High-MrALP was not detected in normal children. In bone disease, the bone isoform was increased in all age groups. In liver disease, only 5 of 30 infants younger than six months had detectable liver ALP, although half had increased bone ALP. Among children older than six months, 5 patients with biliary atresia and 15 patients with hepatitis A all had increased liver isoform activity. Liver ALP was also a sensitive index of early hepatobiliary complications in 27 nonjaundiced children with cystic fibrosis. Measurement of ALP isoforms therefore yields useful clinical information in children older than six months but is of doubtful value in younger infants.
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PMID:Wheat-germ lectin affinity electrophoresis for alkaline phosphatase isoforms in children: age-dependent reference ranges and changes in liver and bone disease. 158 17

Bone alkaline phosphatase is a marker of osteoblast activity. In order to study the posttranscriptional modification (glycosylation) of bone alkaline phosphatase in bone disease, we investigated the relationship between mass and catalytic activity of bone alkaline phosphatase in patients with osteoporosis and hyperthyroidism. Serum bone alkaline phosphatase activity was measured after lectin precipitation using the Iso-ALP test kit. Mass concentration of bone alkaline phosphatase was determined with an immunoradiometric assay (Tandem-R Ostase). In general, serum bone alkaline phosphatase mass and activity concentration correlated well. The activity : mass ratio of bone alkaline phosphatase was low in hyperthyroidism. Activation energy of the reaction catalysed by bone alkaline phosphatase was high in osteoporosis and in hyperthyroidism. Experiments with neuraminidase digestion further demonstrated that the thermodynamic heterogeneity of bone alkaline phosphatase can be explained by a different glycosylation of the enzyme.
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PMID:Posttranslational heterogeneity of bone alkaline phosphatase in metabolic bone disease. 786 22

Hypophosphatasia is a rare bone disorder characterised by low levels of tissue non-specific alkaline phosphatase (TNSALP). Although TNSALP is widespread in virtually all tissues the clinical effects, when produced, seem only to affect the mineralizing tissue such as teeth and skeleton. The skeleton is severely affected in the perinatal form of the disease, when death may occur in utero, or may not be affected in the adult type variety of the disease. We therefore compared the catalytic (cBALP) and immunoreactivity (iBALP) of bone alkaline phosphatase isoenzyme in six families with hypophosphatasia. iBALP was measured using an IRMA method. cBALP was measured after electrophoretic separation of serum alkaline phosphatase isoenzymes on lectin containing agarose gel. The percentage of different isoenzymes was calculated using densitometric scanning and cBALP calculated from the known total serum alkaline phosphatase activity. Results showed cBALP=0.796+3. 269iBALP, r=0.9 p<0.01, in cases of hypophosphatasia. In general, the lower the iBALP and cBALP the more severe the skeletal disease. The bone isoenzyme level predicts the clinical severity of bone disease.
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PMID:Comparison of serum catalytic activity and immunoreactivity of bone alkaline phosphatase in hypophosphatasia. 1072 73