HYPOPHOSPHATASIA (ADULT FORM) - QUANTITATION OF SERUM ALKALINE-PHOSPHATASE ISOENZYME ACTIVITY IN A LARGE KINDRED

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  • 1 January 1980
    • journal article
    • research article
    • Vol. 26  (7) , 840-845
Abstract
Heat inactivation, L-phenylalanine inhibition and electrophoresis on polyacrylamide gel and cellulose acetate membranes.sbd.with and without use of specific antisera against the liver-bone, intestinal and placental isoenzymes.sbd.were used to distinguish and quantitate the different alkaline phosphatase isoenzymes in sera from 23 adult members of a kinderd affected by the adult form of hypophosphatasia. Nine subjects had values for total activity > 2 SD below the mean values for age- and sex-matched normal persons. Bone isoenzyme was diminished in all 9, whereas liver isoenzyme was subnormal in only 4. Phosphoethanolamine and phosphoserine in the urine of 8 hypophosphatasemic individuals correlated inversely with both total and liver alkaline phosphatase activity in their serum, but not with the activity of the bone isoenzyme. Total activity in the serum of adult kindred members correlated best with the circulating liver isoenzyme activity. Altered hepatic metabolism may be responsible for the increased urinary excretion of phosphoethanolamine, and perhaps phosphoserine, in hypophosphatasia.

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