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Bone development in children and adolescents with PKU
A B Mendes1, F F Martins, W M S Cruz
1Mestrado em Atenção Integrada à Saúde da Criança e do Adolescente, Faculdade de Medicina da Universidade Federal Fluminense, Santos Moreira Street, 89 / 7 Santa Rosa, 24241080 Niterói, Rio de Janeiro, Brazil. abarcellosmendes@yahoo.com.br
Journal of Inherited Metabolic Disease
|November 15, 2011
Summary
Dietary non-adherence in phenylketonuria (PKU) negatively impacts bone age and bone mineral density in children and adolescents. This highlights the critical role of nutritional management in bone development for PKU patients.
Area of Science:
- Pediatric Endocrinology
- Metabolic Disorders
- Nutritional Science
Background:
- Phenylketonuria (PKU) is associated with childhood bone disease.
- Non-adherence to treatment, nutritional inadequacy, and high phenylalanine levels are linked to bone disease in PKU.
- Understanding the impact of dietary factors and phenylalanine control on bone health is crucial.
Purpose of the Study:
- To investigate the effects of dietary intake (energy, protein, calcium, phosphorus, phenylalanine) and plasma phenylalanine control on bone age (BA) and bone mineral density (BMD) in PKU patients.
- To describe the relationship between nutritional status and skeletal development in children and adolescents with PKU.
Main Methods:
- Study included 13 pediatric patients (8-16 years old) with PKU.
- Data collected: plasma phenylalanine levels, food frequency and records, hand/wrist X-rays for bone age assessment, and spinal bone densitometry for BMD.
- Comparison of dietary intake and biochemical markers between adherent and non-adherent groups.
Main Results:
- Non-adherent individuals (children and adolescents) exhibited higher plasma phenylalanine levels and lower intake of essential nutrients like calcium and energy.
- Children non-adherent to diet showed advanced bone age and reduced bone mineral density.
- Adolescents non-adherent to diet also presented advanced bone age and significantly lower bone mineral density compared to recommended values.
Conclusions:
- Dietary non-adherence in PKU significantly impacts bone age and bone mineral density in both pediatric and adolescent age groups.
- Nutritional imbalances, particularly inadequate intake of bone-metabolism nutrients, contribute to failure to thrive in children and reduced bone mineralization in adolescents.
- Effective dietary management and adherence are essential for optimizing skeletal development and bone health in individuals with PKU.
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