A metabolic disorder caused by deficiency of phenylalanine hydroxylase, requiring dietary restriction of phenylalanine.
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding phenylketonuria is primarily due to its rarity, affecting fewer than 10,000 people in the United States. This rarity restricts the number of systematic clinical studies, making comprehensive data collection and characterization difficult. Additionally, the absence of identified genes and established inheritance patterns contributes to the challenges in understanding the full clinical picture.
To manage phenylketonuria effectively, it is crucial to consult with a metabolic specialist or a dietitian who specializes in metabolic disorders. They can provide tailored dietary recommendations and monitor your condition. You can also connect with flok Health, a patient organization dedicated to supporting individuals with PKU, at https://flok.org. Additionally, consider participating in patient registries or natural history studies to contribute to the understanding of PKU and its management.
There are several promising treatments in development for phenylketonuria, including engineered bacteria designed to consume phenylalanine in the gastrointestinal tract and gene therapy approaches using adeno-associated virus vectors to deliver the human phenylalanine hydroxylase gene. Currently, there are 38 active clinical trials investigating various aspects of PKU. For more information on these trials, you can visit ClinicalTrials.gov and search for 'phenylketonuria'.
Actionable guidance for navigating care for phenylketonuria
To manage phenylketonuria effectively, it is crucial to consult with a metabolic specialist or a dietitian who specializes in metabolic disorders. They can provide tailored dietary recommendations and monitor your condition. You can also connect with flok Health, a patient organization dedicated to supporting individuals with PKU, at https://flok.org. Additionally, consider participating in patient registries or natural history studies to contribute to the understanding of PKU and its management.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the phenylketonuria community
Helpful links for rare disease information and support
The limited documentation surrounding phenylketonuria is primarily due to its rarity, affecting fewer than 10,000 people in the United States. This rarity restricts the number of systematic clinical studies, making comprehensive data collection and characterization difficult. Additionally, the absence of identified genes and established inheritance patterns contributes to the challenges in understanding the full clinical picture.
To manage phenylketonuria effectively, it is crucial to consult with a metabolic specialist or a dietitian who specializes in metabolic disorders. They can provide tailored dietary recommendations and monitor your condition. You can also connect with flok Health, a patient organization dedicated to supporting individuals with PKU, at https://flok.org. Additionally, consider participating in patient registries or natural history studies to contribute to the understanding of PKU and its management.
There are several promising treatments in development for phenylketonuria, including engineered bacteria designed to consume phenylalanine in the gastrointestinal tract and gene therapy approaches using adeno-associated virus vectors to deliver the human phenylalanine hydroxylase gene. Currently, there are 38 active clinical trials investigating various aspects of PKU. For more information on these trials, you can visit ClinicalTrials.gov and search for 'phenylketonuria'.
Actionable guidance for navigating care for phenylketonuria
To manage phenylketonuria effectively, it is crucial to consult with a metabolic specialist or a dietitian who specializes in metabolic disorders. They can provide tailored dietary recommendations and monitor your condition. You can also connect with flok Health, a patient organization dedicated to supporting individuals with PKU, at https://flok.org. Additionally, consider participating in patient registries or natural history studies to contribute to the understanding of PKU and its management.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the phenylketonuria community
Helpful links for rare disease information and support
The limited documentation surrounding phenylketonuria is primarily due to its rarity, affecting fewer than 10,000 people in the United States. This rarity restricts the number of systematic clinical studies, making comprehensive data collection and characterization difficult. Additionally, the absence of identified genes and established inheritance patterns contributes to the challenges in understanding the full clinical picture.
To manage phenylketonuria effectively, it is crucial to consult with a metabolic specialist or a dietitian who specializes in metabolic disorders. They can provide tailored dietary recommendations and monitor your condition. You can also connect with flok Health, a patient organization dedicated to supporting individuals with PKU, at https://flok.org. Additionally, consider participating in patient registries or natural history studies to contribute to the understanding of PKU and its management.
There are several promising treatments in development for phenylketonuria, including engineered bacteria designed to consume phenylalanine in the gastrointestinal tract and gene therapy approaches using adeno-associated virus vectors to deliver the human phenylalanine hydroxylase gene. Currently, there are 38 active clinical trials investigating various aspects of PKU. For more information on these trials, you can visit ClinicalTrials.gov and search for 'phenylketonuria'.
Actionable guidance for navigating care for phenylketonuria
To manage phenylketonuria effectively, it is crucial to consult with a metabolic specialist or a dietitian who specializes in metabolic disorders. They can provide tailored dietary recommendations and monitor your condition. You can also connect with flok Health, a patient organization dedicated to supporting individuals with PKU, at https://flok.org. Additionally, consider participating in patient registries or natural history studies to contribute to the understanding of PKU and its management.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the phenylketonuria community
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
International Classification of Diseases
3 peer-reviewed sources from PubMed
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 11 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.