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.

Topics:
emotional dependency, vitamin d, rickets, amino acid metabolism, inborn errors, calcium test, serum, hypophosphatemia, muscle weakness, renal tubular acidosis, seizures, vitamin d deficiency
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Copyright © 1970 by the American Academy of Pediatrics
1970
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