Work

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

Year: 2024

Type: article

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: -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.

Source: Molecular Genetics and Metabolism Reports

DOI: 10.1016/j.ymgmr.2024.101173

Authors: Akram Ehsasat Vatan, Amin Mottaghizade Gargari, Arian Haghtalab, Nima Ebrahimpour Seraydar

Institutions: Urmia University of Medical Sciences, Hamedan University of Medical Sciences

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,410