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Abstract
Recent research in children with Phenylketonuria (PKU), the most common inherited disorder of amino acid metabolism, suggests they have decreased bone mineral density (BMD). Although the etiology of this problem is unknown, children with PKU and other inherited metabolic disorders consume specialized diets that often severely restrict vitamin D-containing food sources. The primary goals of this study were to evaluate the prevalence of vitamin D deficiency in a group of children with inherited metabolic disorders who are consuming a medical food diet, and to determine whether BMD in children with PKU correlates with diet and/or biochemical markers of bone metabolism.