Serum alkaline phosphatase in hypophosphatasia

Phenotypically dissimilar hypophosphatasia in two sibships

“…1982: Moore et al. Babiniki response. Several teeth from the second denti- 19901 and between sibs have been reported in both infantile/childhood [Warshaw et al, 1971;Taillard et al, 19841 and adult types [Whyte et al, 19791. The affected individuals in kindred B could have easily been considered to have the dental type of HP.…”

Alkaline Phosphatases in Biology and Medicine

“…Decreases in serum AP were found in hypophosphatasia. hypothyroidism, pernicious anemia and in blood samples anticoagulated with oxalacetate [113,114], Benoxaprofen, a nonsteroidal anti-in flammatory agent used in the UK, was found occasionally to normalize serum AP in pa tients with osteoarthritis, rheumatoid arthri tis and ankylosing spondylitis [115]. Since benoxaprofen affects the monocytes, it was hypothesized that the reduction of AP under its influence was via the osteoblasts, second ary to osteoclasts which are derived from monocyte precursors.…”

Applications of Monoclonal Antibodies in Enzyme Genetics

“…In contrast, electrophoretic polymorphism has not been detected with either the intestinal or the liverlbonelkidney ALPs. However, a rare mutant has been recognized, presumably at the liverlbone/kidney locus, that results in a gross deficiency of these three ALPs but does not affect intestinal or placental ALP (6,14,35,37,55). This mutation in the homozygous state is the cause of the inborn error of metabolism known as hypophosphatasia, which is characterized by a severe defect in osteogenesis.…”