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April 29, 1961

Clinical Manifestations of Genetic Aberrations of Calcium and Phosphorus Metabolism

Author Affiliations


From the Department of Paediatrics, University of Toronto, and the Research Institute of the Hospital for Sick Children.

JAMA. 1961;176(4):281-287. doi:10.1001/jama.1961.63040170006007

The normal metabolism of calcium and phosphorus is maintained by the delicate balance of many physiological mechanisms. Alteration in any one of these mechanisms disturbs the normal homeostasis, and the resulting clinical syndromes are as numerous and varied as the controlling mechanisms themselves.

Although details of the metabolic pathways controlling absorption, dynamic equilibrium, and excretion of calcium and phosphorus are not yet fully understood, vitamin D and parathyroid hormone are known to play essential roles. The most important application of this knowledge has been the control of vitamin D deficiency rickets in most parts of the world. With this problem virtually solved, attention has been focused on other aberrations of calcium and phosphorus metabolism.

Several of these aberrations have been shown to be genetically determined and must be classified as inborn errors of metabolism. Others are thought to be under genetic influence, but rigorous proof is still lacking. Because of