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Peak bone mass in patients with phenylketonuria
D Modan-Moses1, I Vered, G Schwartz
1Pediatric Endocrinology Unit, The Edmond and Lily Safra Children's Hospital, Tel-Hashomer, 52621, Israel. dmodan@sheba.health.gov.il
Journal of Inherited Metabolic Disease
|March 10, 2007
Summary
Peak bone mass is reduced in adults with phenylketonuria (PKU). This study found osteopenia in over a third of patients, with no clear link to diet adherence or blood markers.
Area of Science:
- Metabolic disorders
- Bone health
- Nutritional science
Background:
- Phenylketonuria (PKU) is a genetic disorder requiring strict dietary management.
- Previous research suggests reduced bone mass in PKU patients, but studies often involve small or mixed-age groups.
Purpose of the Study:
- To assess peak bone mass in adult PKU patients.
- To investigate the relationship between bone mineral density (BMD) and nutritional parameters in this population.
Main Methods:
- Dual-energy x-ray absorptiometry (DXA) was used to measure BMD in 31 adult PKU patients.
- Nutritional intake was assessed via food diaries, and diet adherence was self-reported.
Main Results:
- Osteopenia was present in 38.7% of patients, and osteoporosis in 6.5%.
- No significant correlations were found between BMD and blood phenylalanine levels, nutritional intake, or adherence to the PKU diet.
- Elevated blood phenylalanine levels were common, with only 32.2% of patients meeting recommended concentrations.
Conclusions:
- Adult PKU patients exhibit decreased peak bone mass.
- The exact cause remains unclear, with potential factors like long-term dietary deficiencies or intrinsic disease defects not supported by this study's findings.
- Further research is necessary to determine the etiology of low bone density in PKU.
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