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In 1974, a 2-year-old boy was diagnosed as having X-linked hypophosphataemic rickets (XLH) because of severe rickets and hypophosphataemia. The vitamin D metabolite concentrations, blood and urine chemistry and renal 25-hydroxyvitamin D3 (25OHD3)-1 alpha-hydroxylase were measured in 1982 (about 2 weeks after withdrawal of medication). 1 alpha-hydroxylase was 392 pg/mg tissue/20 min in the patient, which was high compared with aged-matched controls (69.7 +/- 28.5 pg/mg tissue/20 min, mean +/- SD, n = 7). Our present studies showed that the 1 alpha-hydroxylase activity in the patient with XLH was elevated. Therefore, the normal or low 1,25-dihydroxyvitamin D3 (1,25-(OH)2D3) concentrations in XLH patients could be due to accelerated catabolism of 1,25-(OH)2D3 or abnormally regulated 25OHD3-1 alpha-hydroxylase in response to hypophosphataemia, although significantly elevated above that in normal controls.
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H Yabuuchi
September 1985,
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Biochemical and biophysical research communications,
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January 1980,
Methods in enzymology,
