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Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023

Axel Boehnke1, Lisa-Marie Müller2, Constantin Heidecke2

  • 1PTC Therapeutics Germany GmbH, The SQUAIRE 12, Am Flughafen, 60549, Frankfurt am Main, Germany. aboehnke@ptcbio.com.

Orphanet Journal of Rare Diseases
|July 3, 2026
PubMed

Insights

Phenylketonuria (PKU) patients face significant comorbidities and higher healthcare costs. Lifelong management strategies are crucial for this rare metabolic disorder, with age-dependent treatment patterns observed in Germany.

Area of Science:

  • Metabolic disorders
  • Genetics
  • Public health

Background:

  • Phenylketonuria (PKU) is a rare inherited metabolic disorder requiring lifelong management.
  • Early detection via newborn screening improves outcomes, but long-term care data is limited.
  • This study investigates PKU epidemiology, comorbidities, treatment, and healthcare utilization in Germany.

Purpose of the Study:

  • To assess the epidemiology of PKU in Germany.
  • To analyze comorbidities, treatment practices, and healthcare resource utilization (HCRU) in PKU patients.
  • To identify age-dependent differences in PKU management.

Main Methods:

  • Analysis of nationwide statutory health insurance (SHI) claims data from 2013-2023.
  • Inclusion of approximately 4.4 million insured individuals, representing a 5% sample.
  • Comparison of PKU patients with matched healthy controls (1:10).

Main Results:

  • PKU prevalence was 0.007%-0.008%, with a cumulative prevalence of 0.010% (2019-2023).
  • PKU patients exhibited significantly higher odds of comorbidities, including intellectual disability (OR 16.0) and metabolic disorders (OR 9.2).
  • Nutritional therapy declined with age, pharmacological treatment was underutilized, and rehabilitation care was higher in children.

Conclusions:

  • PKU care in Germany shows age-dependent treatment variations.
  • A high burden of comorbidities exists in PKU patients, indicating unmet medical needs.
  • Structured lifelong management strategies are essential for effective PKU care.
Abstract

Keywords:
ComorbiditiesHCRUMaternal PKU syndromePharmacological treatmentPhenylketonuria (PKU)Rare diseaseReal-world dataRehabilitation care

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