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Clinical Chemistry 26: 840-845, 1980;
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Clinical Chemistry, Vol 26, 840-845, Copyright © 1980 by American Association for Clinical Chemistry

Hypophosphatasia (adult form): quantitation of serum alkaline phosphatase isoenzyme activity in a large kindred

JL Millan, MP Whyte, LV Avioli and WH Fishman

We used heat inactivation, L-phenylalanine inhibition, and electrophoresis on polyacrylamide gel and cellulose acetate membranes-- with and without use of specific antisera against the liver-bone, intestinal, and placental isoenzymes--to distinguish and quantitate the different alkaline phosphatase isoenzymes in sera from 23 adult members of a kindred affected by the adult form of hypophosphatasia. Nine subjects had values for total activity more than two standard deviations below the mean values for age- and sex-matched normal persons. Bone isoenzyme was diminished in all nine, whereas liver isoenzyme was subnormal in only four. Phosphoethanolamine and phosphoserine in the urine of eight 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. The findings suggest that altered hepatic metabolism is responsible for the increased urinary excretion of phosphoethanolamine, and perhaps phosphoserine, in hypophosphatasia.


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 Arch Intern MedHome page
R. S. Weinstein and M. P. Whyte
Heterogeneity of Adult Hypophosphatasia Report of Severe and Mild Cases
Arch Intern Med, May 1, 1981; 141(6): 727 - 731.
[Abstract] [PDF]


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Copyright © 1980 by the American Association for Clinical Chemistry.