Familial Hypophosphatemic Rickets: Defective Transport of Inorganic Phosphate by Intestinal Mucosa

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Science  16 Feb 1973:
Vol. 179, Issue 4074, pp. 700-702
DOI: 10.1126/science.179.4074.700


Uptake of inorganic phosphate is impared in intestinal mucosa from hemizygous males and heterozygous females with X-linked familial hypophosphatemic rickets. Considerable intrafamilial and interfamilial variation in uptake of inorganic phosphate is observed in affected patients. Uptake by normal mucosa is concentrative and energy-dependent, and is mediated by at least two systems with widely different affinities. These results lend direct support to the thesis that the primary metabolic disturbance in this disease results from impaired transport of inorganic phosphate in kidney and gut.