Decreased bone mineralization in children with phenylketonuria under treatment

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Abstract
Children with phenylketonuria (PKU) obtain a great deal of their protein and mineral intakes from synthetic elemental formulae devoid of phenylalanine. To assess the effect of such diets and/or the disease on bone mineralization, children with PKU were compared to normal children for many parameters of mineral homeostasis and bone mineralization. A total of 11 children with PKU of mean age 10.9±4.2 years were compared to a large group of normal control children mean age 11.4±4.2, and an age and sex matched subset (n=11). Children with PKU had lower serum calcium (9.1±0.9 vs 10.4±1.9 mg/dl PPPPPt-test. Compared to the total controls and the paired controls, decreases were seen in markers of bone formation; bone alkaline phosphatase, (72±30 vs 126±43 PP<0.05) and procollagen type I carboxyterminal propeptide. No differences were seen in the bone resorption markers tartrate resistant acid phosphatase and urine Ca/Cr. The changes noted could not be related after age correction to serum phenylalanine levels, protein intake, or mineral intakes. It is unclear whether deficits in bone mineralization relate to the disease process itself or its treatment.

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