hypophosphatasia /hy·po·phos·pha·ta·sia/ (-fos″fah-ta´zhah) an inborn error of metabolism with abnormally low serum alkaline phosphatase activity and phosphoethanolamine in the urine, most severe in babies before six months. Affected infants and children have rickets and adults have osteomalacia.
hypophosphatasia
hypophosphatasia [hi″po-fos″fah-ta´zhah]
hypophosphatasia (hī´pōfos´f
-tā´zh),
hy·po·phos·pha·ta·sia (h  p -f sf -t  zh)n. An abnormally low concentration of alkaline phosphatase in the blood. |
hypophosphatasia
[hī′pōfos′fətā′zhə]
Etymology: Gk, hypo + phosphoros, lightbearing
congenital absence of alkaline phosphatase, an enzyme essential to the calcification of bone tissue. Complications include vomiting, growth retardation, and often death in infancy. Children who survive have numerous skeletal abnormalities and suffer from dwarfism. There is no known treatment.
hypophosphatasia [hi″po-fos″fah-ta´zhah]
an inborn error of metabolism marked by abnormally low serum alkaline phosphatase activity; it is manifested by rickets in infants and children and by osteomalacia in adults. It is most severe in babies under six months of age.
hypophosphatasia (hī´pōfos´f
-tā´zh),n a familial disease in which the children may have very low serum alkaline phosphatase levels, total or partial aplasia of the cementum, and an abnormal periodontal ligament in the primary teeth; a decreased phosphatase level that has been linked to a premature loss of primary teeth in children. Examination reveals absence, hypoplasia, or dysplasia of cementum.
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