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. 2025 Jun 4:47:101134.
doi: 10.1016/j.lana.2025.101134. eCollection 2025 Jul.

Patient journey and disease burden characterization of the population with phenylketonuria (PKU) in Brazil: a retrospective analysis through data reported in the public health system administrative database (DATASUS)

Paula R Vargas  1 , Monique Poubel  2 , Bárbara Martins  3 , Paloma Velez  4   5 , Daniel Vilela  6 , Debora Mesojedovas  7 , Tatiana Sá Pacheco Carneiro Magalhães  7   8 , Karly S Louie  9 , André Pessoa  10   11
Affiliations

Patient journey and disease burden characterization of the population with phenylketonuria (PKU) in Brazil: a retrospective analysis through data reported in the public health system administrative database (DATASUS)

Paula R Vargas et al. Lancet Reg Health Am. .

Abstract

Background: In 2001, Brazil implemented a national newborn screening (NBS) for various conditions, including phenylketonuria (PKU). Data is lacking on the effectiveness of the NBS program in diagnosing PKU at birth and initiating treatment with a Phe-free amino acid-based formula within 30 days of diagnosis. This study evaluated the effectiveness of the NBS program and characterized the PKU population.

Methods: An observational, repeated cross-sectional population-based study was conducted using anonymized data from the Department of Informatics of the Unified Health System (DATASUS) in Brazil from 2008 to 2021. Only patients with confirmed diagnoses were included.

Findings: NBS coverage of live births within 30 days of birth was >80% for all years, while annual incidence of PKU ranged from 4 to 8 per 100,000 live births. Median time to screening diagnosis from birth was approximately 18 days (all years). DATASUS had 7615 patients with a record of PKU. The median age of the first record in DATASUS was 6.1 years, predominantly from the southeast region (53%). Also, 44% of the PKU population had a record of receiving Phe-free formula for treatment. Metabolic and related disorders were most prevalent in those <18 years of age (28.1%), while mental and behavioral disorders were most prevalent in those ≥18 years of age (100%).

Interpretation: Further investigations are necessary to enhance the effectiveness of NBS coverage, reduce the time from diagnosis to treatment initiation, improve Phe-free formula distribution, and improve DATASUS data quality.

Funding: The current study was funded by BioMarin Pharmaceutical, Novato, CA.

Keywords: Brazil; Newborn screening; Phenylketonuria; Public healthcare system; SUS.

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Conflict of interest statement

PRV: Has received honoraria as a speaker for BioMarin and travel support. Medical Advisor of Global Association of PKU (GAP) in Brazil. Medical writing services funded by BioMarin. MOP: Has received speaker fees from BioMarin for the event Education on Pegvaliase for Phenylketonuria: A New Horizon for Phenylketonuria (PKU), held in Brazil in May 2024. BM: The author declares no conflict of interests related to this publication. PV: Has received honoraria as a speaker for BioMarin. Medical writing services funded by BioMarin. DRFV: The author declares no conflict of interests related to this publication. DM: Medical writing services funded by BioMarin. Was an employee of BioMarin at the time of the study, and owns stocks or stock options. TSPCM: Medical writing services funded by BioMarin. Was an employee of BioMarin at the time of the study, and owns stocks or stock options. KL: Currently an employee of BioMarin, and owns stocks. AP The author declares no conflict of interests related to this publication.

Figures

Fig. 1
Fig. 1
Distribution of PKU cases in Brazil by region, 2008–2021.
Fig. 2
Fig. 2
Percentage (%) of patients who received Phe-formula: 2a) % received Phe-formula (overall), 2b) % received Phe-formula (PKU diagnosis in same birth year), 2c) % received Phe-formula within 30 days (PKU diagnosis in same birth year), 2d) % received Phe-formula (PKU diagnosis in different year), 2e) % received Phe-formula within 30 days (PKU diagnosis in different year) Note: In panel 2c, “North” category was removed since none of the patients received the formula within the defined timeframe.
Fig. 3
Fig. 3
Distribution of PKU cases by region, 2008–2021.
Fig. 4
Fig. 4
Top 10 most common comorbidities by categories in PKU patients <18 years (N = 6038).
Fig. 5
Fig. 5
Top 10 most common comorbidities by categories in PKU patients ≥18 years (N = 1542).
See this image and copyright information in PMC

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References

    1. Blau N., Van Spronsen F.J., Levy H.L. Phenylketonuria. Lancet. 2010:1417–1427. Elsevier B.V. - PubMed
    1. Vockley J., Andersson H.C., Antshel K.M., et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med. 2014;16:188–200. - PubMed
    1. Mitchell J.J., Trakadis Y.J., Scriver C.R. Phenylalanine hydroxylase deficiency. Genet Med. 2011;13:697–707. - PubMed
    1. Van Wegberg A.M.J., MacDonald A., Ahring K., et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12:1–56. - PMC - PubMed
    1. Borrajo G.J.C. Newborn screening in Latin America at the beginning of the 21st century. J Inherit Metab Dis. 2007;30:466–481. - PubMed

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