# Fenilcetonúria típica

> Página oficial: https://raras.org/doenca/fenilcetonuria-tipica
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 79254 — https://www.orpha.net/en/disease/detail/79254
- **CID-10**: E70.0

## Descrição clínica

Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

## Epidemiologia e herança


## Ensaios clínicos ativos (12)

- **NCT07526909** [RECRUITING]: Effect of Different Meal Types Given Before Exercise on Plasma Amino Acid Levels and Metabolic Control Parameters in Classical Phenylketonuria Patients Undergoing Aerobic and Resistance Exercises — https://clinicaltrials.gov/study/NCT07526909
- **NCT06971731** [RECRUITING]: A Study to Evaluate the Safety and Efficacy of JNT-517 in Participants With Phenylketonuria (PKU) — https://clinicaltrials.gov/study/NCT06971731
- **NCT06302348** [RECRUITING]: A Study of Sepiapterin in Participants With Phenylketonuria (PKU) — https://clinicaltrials.gov/study/NCT06302348
- **NCT06941532** [RECRUITING]: GMP Powdered Substitutes in PKU and TYR — https://clinicaltrials.gov/study/NCT06941532
- **NCT01659749** [RECRUITING]: Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria — https://clinicaltrials.gov/study/NCT01659749
- **NCT06780332** [ACTIVE_NOT_RECRUITING]: Rapid Drug Desensitization Study in Adults Experiencing Hypersensitivity Reactions to Palynziq — https://clinicaltrials.gov/study/NCT06780332
- **NCT05166161** [ACTIVE_NOT_RECRUITING]: A Long-Term Safety Study of PTC923 in Participants With Phenylketonuria — https://clinicaltrials.gov/study/NCT05166161
- **NCT05972629** [ACTIVE_NOT_RECRUITING]: A Phase 1/Phase 2 Open-label Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Administration of SAR444836 in Adult Participants With Phenylketonuria — https://clinicaltrials.gov/study/NCT05972629
- **NCT05781399** [ACTIVE_NOT_RECRUITING]: First-in-Human, Multiple Part Clinical Study of JNT-517 in Healthy Participants and in Participants With Phenylketonuria — https://clinicaltrials.gov/study/NCT05781399
- **NCT06901323** [ACTIVE_NOT_RECRUITING]: Effect of L-carnitine Supplementation on Phenylalanine and Brain-derived Neurotrophic Factor Levels in Infants and Children With Phenylketonuria — https://clinicaltrials.gov/study/NCT06901323

## Centros de referência no Brasil (21)

- Hospital Universitário Prof. Edgard Santos (HUPES) (Salvador/BA)
- Hospital de Apoio de Brasília (HAB) (Brasília/DF)
- Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA) (Vila Velha/ES)
- Hospital das Clínicas da UFG (Goiânia/GO)
- Hospital das Clínicas da UFMG (Belo Horizonte/MG)
- NUPAD / Faculdade de Medicina UFMG (Belo Horizonte/MG)
- Hospital Universitário João de Barros Barreto (Belém/PA)
- Hospital de Clínicas da Universidade Federal de Pernambuco (Recife/PE)
- Instituto de Medicina Integral Prof. Fernando Figueira (IMIP) (Recife/PE)
- Hospital de Clínicas da UFPR (Curitiba/PR)
- Hospital Universitário Pedro Ernesto (HUPE-UERJ) (Rio de Janeiro/RJ)
- Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz) (Rio de Janeiro/RJ)
- Hospital Universitário Onofre Lopes (HUOL) (Natal/RN)
- Hospital São Lucas da PUCRS (Porto Alegre/RS)
- Hospital de Clínicas de Porto Alegre (HCPA) (Porto Alegre/RS)
- Hospital Universitário da UFSC (HU-UFSC) (Florianópolis/SC)
- Hospital das Clínicas da FMUSP (São Paulo/SP)
- Hospital de Clínicas da UNICAMP (Campinas/SP)
- Hospital de Clínicas de Ribeirão Preto (HCRP-USP) (Ribeirão Preto/SP)
- Instituto da Criança e do Adolescente (ICr-HCFMUSP) (São Paulo/SP)

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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