Evaluation of bone mineral density and biochemical markers in pediatric patients with phenylketonuria

Abstract

Objectives: Phenylketonuria is a hereditary condition caused by the deficiency of the enzyme phenylalanine hydroxylase, leading to abnormal phenylalanine metabolism. Managing phenylketonuria involves implementing dietary interventions to control phenylalanine levels and prevent complications. However, these treatments can lead to long-lasting negative effects, including impacts on bone health and abnormal biochemical test findings. The aim of the study was to examine the relationship between biological markers and bone density in individuals with phenylketonuria.

Methods: This cross-sectional study was conducted out at Motahari Hospital in Urmia, Iran. The study involved 19 patients with phenylketonuria, examining their demographic information, laboratory findings, and bone density by statistical methods.

Results: The study examined the association between age and bone densitometry outcomes, along with the connection between different biochemical markers and bone densitometry results. The analysis showed no statistically significant link between age and bone densitometry data (P-value = 0.31). The p-values for correlation between bone densitometry and serum calcium, serum phosphorus, phenylalanine, alkaline phosphatase, and 25-hydroxyvitamin D₃ were found to be 0.30, 0.27, 0.57, 0.86, and 0.95, respectively. The only significant relationship was between the result of bone densitometry and alkaline phosphatase levels in the age group below 8 years with a correlation of 0.720 (P-value = 0.01).

Conclusions: The study revealed no association between bone densitometry and levels of serum calcium, serum phosphorus, phenylalanine, and 25-hydroxyvitamin D₃. The only meaningful association was between bone densitometry and alkaline phosphatase in the age group below 8 years.

Keywords: Biochemical markers; Bone mineral density; Densitometry; Phenylketonuria.