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Bone mineral status in children with phenylketonuria under treatment

A Al-Qadreh1, K H Schulpis, H Athanasopoulou

  • 1Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.

Acta Paediatrica (Oslo, Norway : 1992)
|December 10, 1998
PubMed

Insights

Children with phenylketonuria (PKU) often experience osteopenia, a condition of reduced bone density. A stricter diet may improve bone health in these patients.

Area of Science:

  • Pediatric Endocrinology
  • Metabolic Disorders
  • Bone Metabolism

Background:

  • Phenylketonuria (PKU) is a genetic disorder requiring strict dietary management.
  • Bone mineral status can be affected by metabolic disorders and dietary compliance.

Purpose of the Study:

  • To assess bone mineral status in children with PKU.
  • To investigate the relationship between PKU, biochemical markers, and bone density.
  • To evaluate the impact of dietary compliance on bone health in PKU patients.

Main Methods:

  • Bone density measured using single photon absorptiometry in 48 children with PKU and 50 controls.
  • Serum and urinary biochemical markers analyzed, including calcium, magnesium, phosphorus, and alkaline phosphatase.
  • Dietary compliance assessed by serum phenylalanine levels.

Main Results:

  • Severe osteopenia observed in 22/48 PKU patients, more prevalent in those over 8 years old.
  • Bone density correlated negatively with age and serum phenylalanine levels.
  • PKU patients showed altered serum and urinary calcium, magnesium, and phosphorus levels, indicating low bone turnover.
  • Poor dietary compliance was noted in older PKU patients (>8 years).

Conclusions:

  • Osteopenia is a common complication in children with PKU, detectable from early life.
  • Biochemical data suggest a state of low bone turnover in PKU.
  • Improved dietary adherence and stricter dietary control may be crucial for preventing and correcting osteopenia in PKU.

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