Epidemiology and Demographic Characteristics of Phenylketonuria in Brazil: A Real-World Data Study (2019-2024)
Author(s)
Bianca Fasolo Franceschetto, MSc1, Pedro Eugenio Pachelli, BSc2, ANDRESSA FEDERHEN, MSc2, Camila Shizuko Soares Munemassa, MBA2, Carlos Eduardo Silva, MBA2, Celina Borges Migliavaca, PhD3, Ioannis Tomazos, MBA, PhD4, Lara Marina Cruz Lino, MBA2, Maicon Falavigna, PhD, MD3, Pedro Deiro, MBA2, Rodrigo Pereira de Almeida, BSc3, Rongrong Zhang, MSc5, Ida Vanessa Doederlein Schwartz, PhD, MD6.
1Department of Nutrition, UFRGS, Porto Alegre, Brazil, 2PTC Farmacêutica do Brasil Ltda., São Paulo, Brazil, 3HTA Unit, Inova Medical, Porto Alegre, Brazil, 4PTC Therapeutics, South Plainfield, NJ, USA, 5PTC Therapeutics, Stockholm, Sweden, 6Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
1Department of Nutrition, UFRGS, Porto Alegre, Brazil, 2PTC Farmacêutica do Brasil Ltda., São Paulo, Brazil, 3HTA Unit, Inova Medical, Porto Alegre, Brazil, 4PTC Therapeutics, South Plainfield, NJ, USA, 5PTC Therapeutics, Stockholm, Sweden, 6Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
OBJECTIVES: Phenylketonuria (PKU) is an inherited metabolic disorder characterized by impaired phenylalanine metabolism. Data on the epidemiology, patient characteristics, and treatment of PKU in Brazil are limited. This study aims to characterize the incidence, regional distribution, demographic profiles, and treatment patterns of PKU within Brazil’s public health system.
METHODS: We analyzed data from the Outpatient Information System (SIA) of the Department of Informatics of the Unified Health System (DATASUS), covering January 2019 through December 2024. To estimate PKU incidence, we obtained data from Brazil’s National Newborn Screening Program for the year 2023.
RESULTS: Between January 2019 and December 2024, a total of 5,438 unique PKU patients were treated or followed up within Brazil’s public healthcare system. The mean age was 13 years, and 52.2% were female. Over this period, 233 (4.28%) were treated with sapropterin and 2,640 (48.55%) with formula. In 2024, 3,388 unique patients were recorded as receiving PKU‐related care, corresponding to a prevalence of 1.59 per 100,000 inhabitants nationwide. The highest regional prevalence rates were observed in the Southeast (1.94) and South (1.64), roughly double those in the North (0.72) and Northeast (1.05). In 2023, newborn screening coverage reached 83.5%, with 1,923,439 infants screened. Ninety new PKU cases were identified, yielding an incidence of 4.88 per 100,000 live births, with similar rates across all regions.
CONCLUSIONS: Although neonatal screening and dietary management are universally offered in Brazil, significant regional disparities remain in access to specialized care and pharmacotherapy, particularly in the North and Northeast. The low utilization of sapropterin highlights ongoing barriers to treatment. These findings underscore the need for targeted policy interventions and resource allocation to achieve equitable PKU care across the country.
METHODS: We analyzed data from the Outpatient Information System (SIA) of the Department of Informatics of the Unified Health System (DATASUS), covering January 2019 through December 2024. To estimate PKU incidence, we obtained data from Brazil’s National Newborn Screening Program for the year 2023.
RESULTS: Between January 2019 and December 2024, a total of 5,438 unique PKU patients were treated or followed up within Brazil’s public healthcare system. The mean age was 13 years, and 52.2% were female. Over this period, 233 (4.28%) were treated with sapropterin and 2,640 (48.55%) with formula. In 2024, 3,388 unique patients were recorded as receiving PKU‐related care, corresponding to a prevalence of 1.59 per 100,000 inhabitants nationwide. The highest regional prevalence rates were observed in the Southeast (1.94) and South (1.64), roughly double those in the North (0.72) and Northeast (1.05). In 2023, newborn screening coverage reached 83.5%, with 1,923,439 infants screened. Ninety new PKU cases were identified, yielding an incidence of 4.88 per 100,000 live births, with similar rates across all regions.
CONCLUSIONS: Although neonatal screening and dietary management are universally offered in Brazil, significant regional disparities remain in access to specialized care and pharmacotherapy, particularly in the North and Northeast. The low utilization of sapropterin highlights ongoing barriers to treatment. These findings underscore the need for targeted policy interventions and resource allocation to achieve equitable PKU care across the country.
Conference/Value in Health Info
2025-11, ISPOR Europe 2025, Glasgow, Scotland
Value in Health, Volume 28, Issue S2
Code
EPH78
Topic
Epidemiology & Public Health
Disease
No Additional Disease & Conditions/Specialized Treatment Areas, Rare & Orphan Diseases