Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenita...
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding maternal phenylketonuria is primarily due to its rarity, which affects fewer than 1 in 10,000 births. This rarity leads to fewer systematic clinical studies and a lack of comprehensive data on its clinical features and genetic underpinnings. Additionally, the complexities of maternal health during pregnancy add layers of difficulty in characterizing the condition thoroughly. However, ongoing research may provide more insights in the future.
For individuals affected by maternal phenylketonuria, seeking a specialist in metabolic disorders or a geneticist with experience in metabolic conditions is crucial. These professionals can provide guidance on management strategies and potential participation in clinical trials. While no specific patient organizations are currently identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may offer valuable information. Additionally, consider exploring opportunities for participation in clinical trials, which can provide access to cutting-edge therapies and contribute to the understanding of this condition.
Currently, there are several orphan drugs in development for maternal phenylketonuria, including (R)-3-(1-cyclopropyl-3-(2-fluoro-4-(trifluoromethoxy)benzyl)ureido)piperidine-1-carboxamide and various gene therapies targeting phenylalanine hydroxylase. Additionally, there are two active clinical trials aimed at exploring treatment options for this condition. You can find more information about these trials at ClinicalTrials.gov: https://clinicaltrials.gov/search?cond=maternal%20phenylketonuria.
Actionable guidance for navigating care for maternal phenylketonuria
For individuals affected by maternal phenylketonuria, seeking a specialist in metabolic disorders or a geneticist with experience in metabolic conditions is crucial. These professionals can provide guidance on management strategies and potential participation in clinical trials. While no specific patient organizations are currently identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may offer valuable information. Additionally, consider exploring opportunities for participation in clinical trials, which can provide access to cutting-edge therapies and contribute to the understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation surrounding maternal phenylketonuria is primarily due to its rarity, which affects fewer than 1 in 10,000 births. This rarity leads to fewer systematic clinical studies and a lack of comprehensive data on its clinical features and genetic underpinnings. Additionally, the complexities of maternal health during pregnancy add layers of difficulty in characterizing the condition thoroughly. However, ongoing research may provide more insights in the future.
For individuals affected by maternal phenylketonuria, seeking a specialist in metabolic disorders or a geneticist with experience in metabolic conditions is crucial. These professionals can provide guidance on management strategies and potential participation in clinical trials. While no specific patient organizations are currently identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may offer valuable information. Additionally, consider exploring opportunities for participation in clinical trials, which can provide access to cutting-edge therapies and contribute to the understanding of this condition.
Currently, there are several orphan drugs in development for maternal phenylketonuria, including (R)-3-(1-cyclopropyl-3-(2-fluoro-4-(trifluoromethoxy)benzyl)ureido)piperidine-1-carboxamide and various gene therapies targeting phenylalanine hydroxylase. Additionally, there are two active clinical trials aimed at exploring treatment options for this condition. You can find more information about these trials at ClinicalTrials.gov: https://clinicaltrials.gov/search?cond=maternal%20phenylketonuria.
Actionable guidance for navigating care for maternal phenylketonuria
For individuals affected by maternal phenylketonuria, seeking a specialist in metabolic disorders or a geneticist with experience in metabolic conditions is crucial. These professionals can provide guidance on management strategies and potential participation in clinical trials. While no specific patient organizations are currently identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may offer valuable information. Additionally, consider exploring opportunities for participation in clinical trials, which can provide access to cutting-edge therapies and contribute to the understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation surrounding maternal phenylketonuria is primarily due to its rarity, which affects fewer than 1 in 10,000 births. This rarity leads to fewer systematic clinical studies and a lack of comprehensive data on its clinical features and genetic underpinnings. Additionally, the complexities of maternal health during pregnancy add layers of difficulty in characterizing the condition thoroughly. However, ongoing research may provide more insights in the future.
For individuals affected by maternal phenylketonuria, seeking a specialist in metabolic disorders or a geneticist with experience in metabolic conditions is crucial. These professionals can provide guidance on management strategies and potential participation in clinical trials. While no specific patient organizations are currently identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may offer valuable information. Additionally, consider exploring opportunities for participation in clinical trials, which can provide access to cutting-edge therapies and contribute to the understanding of this condition.
Currently, there are several orphan drugs in development for maternal phenylketonuria, including (R)-3-(1-cyclopropyl-3-(2-fluoro-4-(trifluoromethoxy)benzyl)ureido)piperidine-1-carboxamide and various gene therapies targeting phenylalanine hydroxylase. Additionally, there are two active clinical trials aimed at exploring treatment options for this condition. You can find more information about these trials at ClinicalTrials.gov: https://clinicaltrials.gov/search?cond=maternal%20phenylketonuria.
Actionable guidance for navigating care for maternal phenylketonuria
For individuals affected by maternal phenylketonuria, seeking a specialist in metabolic disorders or a geneticist with experience in metabolic conditions is crucial. These professionals can provide guidance on management strategies and potential participation in clinical trials. While no specific patient organizations are currently identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may offer valuable information. Additionally, consider exploring opportunities for participation in clinical trials, which can provide access to cutting-edge therapies and contribute to the understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
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 Jan 30, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
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