PEDIATRICS Vol. 45 No. 3 March 1970, pp. 361-363
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VITAMIN D DEPENDENCY

Charles R. Scriver M.D.1

1 The deBelle Laboratory for Biochemical Genetics, The McGill University-Montreal, Children's Hospital Research Institute, 2300 Tupper Street Montreal 25, Quebec

A condition still quite unfamiliar to many physicians is discussed in this issue of Pediatrics. The disease, called "Vitamin-D-dependent rickets" in the accompanying article, was first segregated from the array of "Vitamin-D-resistant rickets" by Fraser and Salter2 (Type III, A, ii, in their classification), and by Prader and colleagues3 (hereditary pseudo-vitamin-D-deficiency rickets, in their terminology). The condition is characterized by signs and symptoms which appear in the first year of life, and which are easily mistaken for those of severe (Stage III) vitamin D deficiency4. As revealed in typical case reports of the condition3,5, manifestations include muscular weakness, convulsions, severe rickets, growth failure, hypophosphatemia, low or normal total serum calcium, mild renal tubular acidosis, and hyperaminoaciduria.




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J. Walton
Familial Hypophosphatemic Rickets: A Delineation of Its Subdivisions and Pathogenesis
Clinical Pediatrics, November 1, 1976; 15(11): 1007 - 1012.
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