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  1. Home
  3. Quantitative Ultrasound For The Assessment Of Bone Quality In Hyperphenylalaninemia/phenylketonuria Patients: Vitamin D Supplementation Versus No Supplementation.
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  3. Quantitative Ultrasound For The Assessment Of Bone Quality In Hyperphenylalaninemia/phenylketonuria Patients: Vitamin D Supplementation Versus No Supplementation.

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Quantitative Ultrasound for the Assessment of Bone Quality in Hyperphenylalaninemia/Phenylketonuria Patients: Vitamin

Albina Tummolo1, Giada De Ruvo1, Marta Di Nicola2

  • 1Children Hospital Giovanni XXIII, Department of Inherited Metabolic Disorders and Clinical Genetics, Azienda Ospedaliero-Universitaria Consorziale, 70126 Bari, Italy.

Metabolites
|November 26, 2025

View abstract on PubMed

Summary
This summary is machine-generated.
Keywords:
QUSbone qualityhyperphenylalaninemiamicronutrientsphenylketonuriaquantitative ultrasoundsupplementationvitamins

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Vitamin D supplementation may improve bone quality in patients with Hyperphenylalaninemia (HPA) and Phenylketonuria (PKU). This study found enhanced bone architecture in supplemented PKU patients, suggesting a reduced fracture risk.

Area of Science:

  • Metabolic disorders
  • Bone health
  • Nutritional science

Background:

  • Skeletal impairment is common in Hyperphenylalaninemia (HPA) and Phenylketonuria (PKU) patients.
  • Quantitative Ultrasound (QUS) offers a safe method to assess bone quality in chronic conditions.

Purpose of the Study:

  • To evaluate bone quality in HPA/PKU patients.
  • To assess the impact of vitamin D supplementation on bone health in these patients.

Main Methods:

  • Calcaneal QUS was used to measure bone quality.
  • Auxological, nutritional, and biomarker data were collected.
  • Patients were grouped based on diet, HPA/PKU status, and vitamin D supplementation.

Main Results:

  • All HPA/PKU patients exhibited lower bone quality index (BQI) Z- and T-scores (< -1).
  • Vitamin D supplementation reduced the incidence of low Z- and T-scores (< -2).
  • PKU patients receiving supplementation showed significantly higher Broadband Ultrasound Attenuation (BUA).

    • Conclusions:

    • Vitamin D supplementation may positively influence bone architecture in HPA/PKU patients.
    • Supplementation could help prevent bone structure deterioration and lower fracture risk.