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Related Experiment Videos

Fractures and phenylketonuria

L G Greeves1, D J Carson, A Magee

  • 1Royal Belfast Hospital for Sick Children, Department of Child Health, UK.

Acta Paediatrica (Oslo, Norway : 1992)
|March 1, 1997
PubMed
Summary

Patients with phenylketonuria (PKU) on dietary treatment showed no overall increased fracture risk. However, older children (over 8 years) with PKU had a significantly higher risk of fractures.

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Area of Science:

  • Pediatrics
  • Metabolic Disorders
  • Orthopedics

Background:

  • Phenylketonuria (PKU) is a rare genetic disorder requiring strict dietary management.
  • Bone health in patients with PKU is a concern due to potential long-term effects of the disease and its treatment.

Purpose of the Study:

  • To investigate the lifetime risk of fractures in individuals with PKU undergoing dietary treatment.
  • To compare fracture history in PKU patients with that of their unaffected siblings.

Main Methods:

  • A questionnaire-based study was conducted on patients aged 0.3 to 33.6 years with PKU and their sibling controls.
  • Fracture history was self-reported or parent-reported.

Main Results:

  • No significant difference in the overall lifetime risk of fractures was found between PKU patients (21/85) and sibling controls (18/98).
  • A significantly higher risk of fractures was observed in PKU patients over the age of 8 years (relative risk = 2.6).

Conclusions:

  • While overall fracture risk is not elevated, older children with PKU may experience increased fracture incidence.
  • This increased risk in older children could be linked to dietary control adherence or cumulative bone mass reduction.

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