Fenilcetonúria (FCU) é um dos problemas genéticos mais comuns que afetam a forma como o corpo processa os aminoácidos e, se não for tratada, pode levar a uma deficiência intelectual que varia de leve a grave.
Introdução
O que você precisa saber de cara
Fenilcetonúria (FCU) é um dos problemas genéticos mais comuns que afetam a forma como o corpo processa os aminoácidos e, se não for tratada, pode levar a uma deficiência intelectual que varia de leve a grave.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 23 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 76 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine
Phenylalanine hydroxylase deficiency
An autosomal recessive inborn error of phenylalanine metabolism characterized by intolerance to dietary intake of the essential amino acid phenylalanine. The disease spectrum depends on the degree of PAH deficiency and the phenylalanine levels in plasma. Severe deficiency causes classic phenylketonuria (PKU) that is characterized by plasma concentrations of phenylalanine persistently above 1200 umol/L. PKU patients develop profound and irreversible intellectual disability, unless low phenylalanine diet is introduced early in life. They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor. Less severe forms of PAH deficiency are characterized by phenylalanine levels above normal (120 umol/L) but below 1200 umol/L and include moderate PKU, mild PKU, non-PKU hyperphenylalaninemia (non-PKU HPA) and mild hyperphenylalaninemia. Individuals with PAH deficiency who have plasma phenylalanine concentrations consistently below 600 umol/L on an unrestricted diet are not at higher risk of developing intellectual, neurologic, and neuropsychological impairment than are individuals without PAH deficiency.
Medicamentos e terapias
Mecanismo: Phenylalanine-4-hydroxylase activator
Mecanismo: Phenylalanine-4-hydroxylase activator
Variantes genéticas (ClinVar)
1,047 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,556 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Fenilcetonúria
Centros de Referência SUS
21 centros habilitados pelo SUS para Fenilcetonúria
Centros para Fenilcetonúria
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Reply to Iqhrammullah, M. Comment on "Bokayeva et al. Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis. Int. J. Mol. Sci. 2024, 25, 5065".
We thank the author for their comment [...].
Comment on Bokayeva et al. Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis. Int. J. Mol. Sci. 2024, 25, 5065.
I read with great interest the work by Bokayeva et al [...].
Assessing the nutritional value and health risks of special low‑protein foods: narrative review.
Special low-protein foods (SLPFs) are essential for patients with disorders of inherited amino acid metabolism that require lifelong dietary protein restriction to prevent severe neurocognitive effects and even death. Conditions such as phenylketonuria (PKU), tyrosinemia (TYR), maple syrup urine disease (MSUD), homocystinuria (HCU), and urea cycle disorders (UCD) depend on these foods to support metabolic control and dietary adherence. SLPFs provide satiety, energy, and help prevent catabolism, but their nutritional composition poses challenges. Most SLPFs are formulated using isolated starches as the primary macronutrient base. Hydrocolloid fibers are commonly added to improve texture, consistency, shelf life, and water or gas retention. These ingredients form the backbone of SLPFs production and are consistently used across different regions worldwide, reflecting a standardized approach to their formulation. However, their potential adverse effects include suppression of gut microbiota, gut dysbiosis, increased inflammatory markers, overweight, and obesity, all of which raise cardio‑metabolic risks. Strengthening the nutritional quality of SLPFs through natural plant sources may help mitigate their potential adverse outcomes while ensuring patients’ dietary needs are met. Therefore, it is important to explore natural low‑protein alternatives that can both support sustainable food production and promote long‑term health benefits. PTS-related tetrahydrobiopterin deficiency (PTPSD) results in a lack of tetrahydropterin, an important cofactor for phenylalanine hydroxylase (PAH), tyrosine hydroxylase, and tryptophan hydroxylase. Deficiency can thus lead to neurotransmitter and neuropsychiatric disorders. The clinical spectrum of PTPSD is broad and differs according to age of onset, severity of disease, and whether preventative therapies were initiated and maintained from an early age. In the severe form, clinical symptoms may become apparent in the neonatal period and can include hypotonia, movement disorders, abnormal eye movements, autonomic dysregulation, and impaired development. Without treatment, developmental delays become more marked. Neurologic symptoms (dysarthria, dystonia, tremors, abnormal gait, parkinsonism, oculogyric crises, motor tics) may be ameliorated by treatment with sapropterin dihydrochloride and neurotransmitter precursors. Other features of the condition can include psychiatric comorbidities (ADHD, anxiety, depression), infant feeding difficulties leading to early growth failure, hyperprolactinemia, growth hormone deficiency, sleep issues, and autonomic dysfunction; many of these features can be ameliorated by appropriate treatment. In treated individuals, development often improves during adolescence, with many adults having a normal IQ level. In the mild (peripheral) form, affected individuals are usually asymptomatic apart from an increase in phenylalanine (Phe) levels. Some remain asymptomatic. However, with time, some have mild developmental delays and can develop deficiency of neurotransmitter production, such that treatment of some asymptomatic individuals may be required. The biochemical diagnosis of PTPSD is established in a proband with confirmed hyperphenylalaninemia, elevated neopterin levels, reduced biopterin levels, and a decreased biopterin-to-neopterin ratio in urine or dried blood spots (DBS) and normal dihydropteridine reductase (DHPR) activity in DBS. The molecular diagnosis of PTPSD is established in a proband by identification of biallelic pathogenic (or likely pathogenic) variants in PTS by molecular genetic testing. Targeted therapies: Immediate therapy with sapropterin (tetrahydrobiopterin dihydrochloride; BH4), a cofactor/cosubstrate of PAH, is recommended to reduce blood Phe concentrations in individuals with hyperphenylalaninemia. If sapropterin is not available, dietary Phe restriction should be implemented. Because sapropterin has limited access to the central nervous system (CNS), or rather, this access is only achieved at high doses, therapy with sapropterin does not normalize the activity of tyrosine or tryptophan hydroxylase in people with PTPSD. Additional treatment strategies are necessary for long-term management and may include the use of neurotransmitter precursors (levodopa plus decarboxylase inhibitor (DCI), i.e., carbidopa or benserazide), 5-hydroxytryptophan, and/or dopamine (rotigotine patch, pramipexole) and/or serotonin agonists, or other medications (MAO inhibitors such as selegiline) to address specific neurotransmitter deficiencies and maintain optimal neurologic function. Supportive care: Optimization of dosage and intervals of levodopa/DCI in those with abnormal movements/parkinsonism; growth hormone supplementation and/or optimization of neurotransmitter precursor therapy for growth hormone deficiency; optimization of neurotransmitter precursor therapy for recurrent hyperthermia; anticholinergic treatment may be considered for hypersalivation; standard treatment for developmental delay, spasticity, epilepsy, sleep disorders, and decreased bone mineral density. Biochemical surveillance: Routine Phe monitoring in infants (age <1 year) weekly until normalized and then every three to six months once levels normalize; every six months in children younger than age 12 years; and every six to 12 months in adolescents and adults; the Phe target ranges correspond to those of PAH deficiency. Prolactin level at each visit. Routine clinical visits with a metabolic specialist (and metabolic dietician if on Phe-restricted diet) every one to three months in infants (age <1 year), every three to six months between ages one and seven years, and every six to 12 months in those age eight years and older. General surveillance: At each visit, measure growth parameters and evaluate nutritional status; asses for new neurologic manifestations (changes in tone, seizures, movement disorders); monitor developmental progress and assess educational needs; monitor for behavioral issues (anxiety, ADHD, emotional dysregulation, depression, aggression); and assess for signs and symptoms of sleep disorders. At ages two, six, 12, and 18 years, consider neuropsychological evaluation. In adulthood, periodic parathormone levels and DXA scan. As needed, consider EEG to differentiate from movement disorder seizures. Agents/circumstances to avoid: Persons with PTPSD on Phe-reduced diet should either avoid products containing aspartame or calculate total intake of Phe when using such products and adapt diet components accordingly. Evaluation of relatives at risk: If prenatal genetic testing has not been performed, each at-risk newborn sib should be evaluated immediately (at or just after 24 hours) after birth for PTPSD using measurement of blood Phe concentration to allow for earliest possible diagnosis and treatment. If older sibs have not undergone NBS or genetic testing for the known familial pathogenic variants in PTS, measure blood Phe concentrations to clarify their disease status. Pregnancy management: Women with PTPSD who have received appropriate treatment throughout childhood and adolescence and during pregnancy may have offspring with normal intellectual and behavioral development, particularly if levels of Phe are kept in the normal range during pregnancy. Intensive clinical and biochemical supervision by a multidisciplinary team before, during, and after pregnancy in a woman with PTPSD is essential to control the symptoms of the disease, adjust the treatment if needed, and monitor the development of the fetus. If the affected woman has elevated blood Phe concentrations during pregnancy, the fetus is at high risk for maternal phenylketonuria (MPKU) syndrome (reported specifically in women who have PAH deficiency as the primary cause of their elevated Phe levels), including malformations and intellectual disability, since Phe is a potent teratogen. PTPSD is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for a PTS pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of inheriting neither of the familial PTS pathogenic variants. Children born of one parent with PTPSD and one parent with two normal PTS alleles are obligate heterozygotes. If the mother is the affected parent, MPKU syndrome is a critical issue. Females with PTPSD should receive counseling regarding the teratogenic effects of elevated maternal plasma Phe concentration (i.e., MPKU syndrome) when they reach childbearing age. Once the PTS pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing for PTPSD are possible.
The prevalence of phenylketonuria (PKU) and hyperphenylalaninemia (HPA) in Iran: a systematic review and meta-analysis.
Phenylketonuria (PKU) is one of the common Inborn Errors of Metabolism diseases, that is caused by a phenylalanine hydroxylase (PAH) deficiency or cofactor tetrahydrobiopterin. This systematic review and meta-analysis aimed to investigate the prevalence of PKU in Iran. The protocol was registered in PROSPERO (CRD42024540811). The MOOSE protocol and the PRISMA guidelines were used. The Web of Sciences, PubMed/ Medline, Sciences Direct, Google Scholar, Scopus, Civilica, IranDoc, and SID databases were searched on 31/03/2024. The I2 index and Q test were used to check heterogeneity. Comprehensive meta-analysis software (CMA ver. 2) was used (P < 0.05 is considered significant). The prevalences were reported in 100,000 neonates at national and provincial levels. Finally, 20 studies with 1,992,090 Iranian neonates were included. The prevalence of screen-positive cases was 75.6 (95% CI: 48.1-118.72). The prevalence of confirmed PKU was 16.7 (95% CI: 13.6- 20.5); this prevalence in girls and boys was 15.2 (95% CI: 5.2-44.2) and 9.8 (95% CI: 3.2- 29.8), respectively. 53% of the cases had Hyperphenylalaninemia (HPA). The prevalence of HPA and classical PKU was estimated at 8.9 (95% CI: 5.9-13.41) and 8.0 (95% CI: 5.1-12.59), respectively. Subgroup analysis was performed based on region, province, and study quality to discover the source of heterogeneity. In addition, mixed effects meta-regression was used to find the relationship between continuous variables. Sensitivity analysis showed that the pooled estimate was robust. It seems that the screening program in Iran was effective and detected almost all PKU cases in the first few days of their lives. This information showed that the PKU prevalence is relatively higher than in most parts of the world, thus their prevalence should be controlled.
Brain Age in Adult Patients With Early-Treated Phenylketonuria.
Structural brain alterations have been observed in individuals with phenylketonuria (PKU); however, the potential impact of PKU on brain aging remains unexplored. This study investigated brain age in adults with early-treated classical PKU compared to healthy controls. Thirty early-treated adults with classical PKU (age 19-48 years) and 59 age-, sex-, and education-comparable healthy controls underwent structural magnetic resonance imaging (MRI), cognitive and mood assessment, and blood sampling. Brain age was estimated using machine learning models trained to predict brain age from MRI-derived features across the full brain, cortical lobes, or subcortical regions. The brain age gap (BAG)-the difference between brain age and chronological age-was calculated. In addition, white matter lesion load was rated in patients. While patients with PKU showed differences in BAG for four out of eight brain age estimates, only the BAG in the insula was significantly higher in PKU than controls after correcting for multiple comparisons (puncor = 0.006, η2 = 0.07). The cingulate BAG was positively associated with concurrent and historical Phe levels (rs = 0.41-0.69, puncor < 0.05) and with white matter lesion load (rs = 0.40, puncor = 0.034). Further, subcortical and cingulate BAG were linked to cognitive performance (rs = -0.41-0.38, puncor < 0.05). These correlations did not survive FDR-correction. In conclusion, the elevated insular BAG in adults with early-treated PKU may reflect atypical brain development due to cumulative effects of early-life or lifelong metabolic disturbances. Longitudinal studies are warranted to elucidate brain aging trajectories and their cognitive implications in PKU.
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Scientific reportsNutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations.
Orphanet journal of rare diseasesA Single-Center Genotype-Phenotype Correlation Cohort Study of Hyperphenylalaninemia Patients: Genetic Analysis as a Deterministic Tool for Treatment Consistency.
Molecular syndromologyA 3-hit metabolic signaling model for the core symptoms of autism spectrum disorder.
MitochondrionTargeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.
Communications medicineNavigating Adolescence with PKU: Adherence, Metabolic Control, and Wellbeing in a UK Clinical Centre.
NutrientsNutritional Practices and Knowledge of Patients with Phenylketonuria.
NutrientsThe influence of professionals' personal views and values in the development of guidelines for rare diseases: an example from phenylketonuria.
Orphanet journal of rare diseasesA colorimetric strategy for quantifying amino acids using E. coli auxotrophs displaying gold-binding proteins.
Biosensors & bioelectronicsRelationship Between Gut Microbiota and Phenylalanine Levels: A Mendelian Randomization Study.
MicrobiologyOpenAn ADAR2-mimic base editor for efficient C-to-U RNA editing in vivo.
Proceedings of the National Academy of Sciences of the United States of AmericaHighly Sensitive Detection of Tyrosine and Neurotransmitters by Stereoselective Biosynthesis and Photochemically Induced Dynamic Nuclear Polarization.
Journal of the American Chemical SocietySynthetic closed-loop gene circuit for phenylalanine regulation.
Nucleic acids researchUnveiling the phenylalanine coaggregation mechanism for a deep understanding of phenylketonuria disease.
Scientific reportsPsychosocial adaptation of children and adolescents with phenylketonuria in Korea.
Molecular genetics and metabolism reportsImpact of gut probiotic metabolites on phenylketonuria.
Frontiers in cellular and infection microbiologyImproved specificity and efficiency of in vivo adenine base editing therapies with hybrid guide RNAs.
Nature biomedical engineeringDocosahexaenoic acid supplementation in phenylketonuria: a systematic review.
Frontiers in nutritionPhotoresponsive HOF-Based Platforms for Large Language Model-Assisted Multimodal Diagnosis of Metabolic Diseases.
Analytical chemistryThe Generation of an Induced Pluripotent Stem Cell Line from a Patient with Phenylketonuria.
International journal of stem cellsRisk of inadequate protein and micronutrient intakes in patients with PKU with an increased phe-tolerance: Impact of a micronutrient-dense protein substitute.
Molecular genetics and metabolism reportsRevisiting phenylketonuria: Do high brain glycine levels caused by chronic hyperphenylalanemia contribute to brain dysfunction by modulating D-serine levels and NMDA receptor activity?
Analytical biochemistrySepiapterin: First Approval.
DrugsPerformance properties of filter-paper used in blood spot collection devices for quantitation of phenylalanine.
BioanalysisImproving self-collected dried blood spot specimens for phenylketonuria monitoring: a 10-year computer vision review of dried blood spot specimen quality.
Clinica chimica acta; international journal of clinical chemistryPerformance of the Egoo test for phenylalanine measurement in females with phenylketonuria.
Orphanet journal of rare diseasesSniffing Out Skin Disease: Odors in Dermatologic Conditions.
CutisGenetic and in silico functional characterization of a novel structural variant in the PAH gene by long-reads sequencing and structural modeling.
Frontiers in geneticsImproving sapropterin administration efficacy in PKU: Clinical practice case studies.
Molecular genetics and metabolism reportsFeeding Models in Classical Phenylketonuria: Do They Make a Difference in Infant Sleep?
NutrientsDietary Inflammatory Index and Nutritional Status in Children with Inborn Errors of Metabolism on Protein-Restricted Diets.
NutrientsEvaluation of corneal and anterior segment parameters in pediatric phenylketonuria.
Japanese journal of ophthalmologyIdentification of an extraction protocol from dried blood spots for untargeted metabolomics: application to phenylketonuria.
Metabolomics : Official journal of the Metabolomic SocietyNewborn screening for rare diseases: expanding the paradigm in the genomic era.
Journal of perinatal medicinePsychometric properties of perceived barriers to PKU treatment inventory in a Brazilian national sample.
Orphanet journal of rare diseasesA non-enzymatic electrochemical biosensor for the detection of phenylalanine using bismuth telluride nanosheets.
Journal of materials chemistry. BEvaluating the quality and reliability of YouTube videos about phenylketonuria.
MedicineSapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient Monitoring.
NutrientsPositive Impact of Breastfeeding on Nutritional Status and Metabolic Control in Infants with PKU: A Retrospective Study.
NutrientsAdvancing Gene Therapy for Phenylketonuria: From Precision Editing to Clinical Translation.
International journal of molecular sciencesPsychosocial well-being of adolescents and young adults living with chronic illness.
Internal medicine journalDiagnostic Challenges and Outcome of Classical Phenylketonuria in a Resource-Constrained Middle Eastern Country.
International journal of pediatricsPhenylketonuria: A guide through the complex maze of its neurological pathophysiology providing a new perspective on treatment strategies.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieOne Shock, Not One Cure: Electroporation Reveals Disease-Specific Constraints in Hepatocyte Gene Editing Therapy.
BiologyMetabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study.
JIMD reportsClinical characteristics and management of Spanish adult patients with phenylketonuria.
Revista clinica espanolaProtein Substitute Absorption: A Randomised Controlled Trial Comparing CGMP vs. Amino Acids vs. Micellar Casein in Healthy Volunteers.
NutrientsGlobal Clinical Practice in Transitioning Protein Substitutes for Children with Phenylketonuria.
NutrientsNeurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review.
Journal of inherited metabolic diseaseCommunication of an Abnormal Metabolic Newborn Screening Result in the Netherlands: A Qualitative Exploratory Study of the General Practitioner's Perspective.
International journal of neonatal screeningGrowth assessment in children with phenylketonuria.
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsNeurodevelopmental assessment of early treated children with phenylketonuria: insights from Griffith III scales.
European journal of pediatricsMetabolomics and Lipidomics Explore Phenotype-Specific Molecular Signatures for Phenylketonuria.
International journal of molecular sciencesThe Gut Mycobiome and Nutritional Status in Paediatric Phenylketonuria: A Cross-Sectional Pilot Study.
NutrientsSmartphone-Powered Pdot Biosensors for Quantitative Phenylketonuria Screening at the Point of Care.
Advanced healthcare materialsThe PKU Patient Registry: Development of a patient-driven registry and initial outcomes.
Molecular genetics and metabolismRethinking Phenylketonuria as an Euphenic Metabolic Disorder.
Acta paediatrica (Oslo, Norway : 1992)Therapeutic engineering of the gut microbiome using synthetic biology and metabolic tools: a comprehensive review with E. coli Nissle 1917 as a model case study.
Archives of microbiologyGlobal considerations for lifelong management and therapeutic development for phenylketonuria.
Genetics in medicine : official journal of the American College of Medical Genetics[Association between genotype and phenotype in children with Phenylalanine hydroxylase deficiency in Lianyungang area].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsMulticenter study on long-term growth in patients with phenylketonuria.
Orphanet journal of rare diseasesMeta-analysis of cognitive outcomes in children and adults with early treated phenylketonuria - Results across functions.
Molecular genetics and metabolismA comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.
Orphanet journal of rare diseasesQuality of life in Jordanian adolescents living with PKU, a single-center, cross-sectional, observational study.
Journal of pediatric nursingAdult-Onset Ataxia and Tremor as a Manifestation of Undiagnosed Phenylketonuria.
Movement disorders clinical practicePersonalized Genotype-Based Approach for Treatment of Phenylketonuria.
Journal of inherited metabolic diseaseEffect of chain length of imidazolium ionic liquids on the l-phenylalanine induced phospholipid vesicle membranes: Fluorescence lifetime imaging microscopy study.
BiointerphasesVitamin B12 and Folate in Adherent and Non-Adherent Individuals with Phenylketonuria: A Cross-Sectional Study, Systematic Review, and Meta-Analysis.
MetabolitesGeneration of a human induced pluripotent stem cell line (NRIFPi001-A) derived from a patient with phenylketonuria (PKU) harboring compound heterozygous variant (c.1199 + 502A＞T and c.728G＞A) in PAH gene.
Stem cell research[Genetic profiling and intervention strategies for phenylketonuria in Gansu, China: an analysis of 1 159 cases].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsA Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback.
Journal of inherited metabolic diseaseAssociational study of neonatal hearing screening results and common metabolic disorders.
International journal of pediatric otorhinolaryngologyComputational Study of Pathogenic Variants in Phenylalanine-4-hydroxylase (PAH): Insights into Structure, Dynamics, and BH4 Binding.
ACS omega[Inherited metabolic disorders in adults:growing patient numbers, advanced diagnostic tools and new treatment modalities].
Nederlands tijdschrift voor geneeskundeThe influence of menstrual cycle on metabolic control and diet in patients with phenylketonuria.
Orphanet journal of rare diseasesPrebiotic Effect of Oxidized Hydroxypropyl Starch via In Vitro and In Vivo.
Foods (Basel, Switzerland)The clinical utility of short-term protein substitute use during intercurrent illness in BH4-responsive phenylketonuria.
Molecular genetics and metabolismSpectrum of PAH gene variants in Jordanian patients with phenylalanine hydroxylase deficiency.
Biomedical reportsInsufficient diet management and monitoring of patients during phase 2 and 3 pharmaceutical clinical trials: A narrative review with a systematic approach.
Nutrition (Burbank, Los Angeles County, Calif.)Rethinking phenylalanine levels in phenylketonuria for optimal neurocognitive development beyond childhood.
Frontiers in pediatricsDiffusivity alterations related to cognitive performance and phenylalanine levels in early-treated adults with phenylketonuria.
Journal of neurodevelopmental disordersNanoencapsulation platform for oral delivery of peptides: In vitro stabilization of AvPAL and formulation of a gastrointestinal-resistant luciferase.
Materials today. BioNutritional profiling of foods for Phenylketonuria.
Scientific reportsEvaluation of mandibular bone structure changes in patients with phenylketonuria through fractal analysis and radiomorphometric indices.
Oral surgery, oral medicine, oral pathology and oral radiologyEx Vivo Osteoclastogenesis from Peripheral Blood Mononuclear Cells Is Unchanged in Adults with Phenylketonuria, Regardless of Dietary Compliance.
International journal of molecular sciencesClinical application of expanded carrier screening based on next-generation sequencing in the Chinese population.
Archives of gynecology and obstetricsIntelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature review.
Orphanet journal of rare diseasesN-Lactoyl Amino Acids: Emerging Biomarkers in Metabolism and Disease.
Diabetes/metabolism research and reviewsPatient 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).
Lancet regional health. AmericasEndoplasmic reticulum stress pathways and cellular death mechanisms in patients with phenylketonuria.
Molecular biology reportsBlood phenylalanine lowering partially reverses white matter changes in a mouse model of phenylketonuria.
Molecular therapy : the journal of the American Society of Gene TherapyExperimental Animal Models of Phenylketonuria: Pros and Cons.
International journal of molecular sciencesA Cross-Sectional Study on Protein Substitutes for Paediatric Phenylketonuria Diet: Time to Pay Attention.
NutrientsFactors associated with psycho-behavioral problems among 100 children with phenylketonuria aged 6-18 years.
Orphanet journal of rare diseasesImpact of a mobile health intervention on health management among children with phenylketonuria based on a multi-theory model of the behavior change wheel theory and family health theory: protocol for a randomized controlled trial.
Frontiers in psychiatryAre protein substitutes available in Italy for infants with inherited metabolic diseases all the same?
Frontiers in nutritionIron Porphyrin-mediated Production of Carbon Monoxide from Phenylpyruvic Acid: From Potential Therapeutic and Diagnostic Use to Physiological Implications.
Medicinal chemistry research : an international journal for rapid communications on design and mechanisms of action of biologically active agentsCurrent state of the treatment landscape of phenylketonuria.
Orphanet journal of rare diseasesGenomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant.
Scientific reportsAge-specific reference intervals for plasma amino acids and their associations with nutrient intake in the Chinese pediatric population.
iMetaThe organizational dimension in rare and complex diseases care management: an application of RarERN Path© methodology in ataxias, dystonia and phenylketonuria.
BMC health services researchComprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria.
The Turkish journal of pediatricsPrevalence of common autosomal recessive and X-linked conditions in pregnant women in Vietnam: a cross-sectional study.
Scientific reportsModelling Population Genetic Screening in Rare Neurodegenerative Diseases.
BiomedicinesThe Influence of Phenylalanine Fluctuations and Intake on a 24 h Sapropterin Responsiveness Test in Patients with Phenylketonuria.
Children (Basel, Switzerland)Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T.
Orphanet journal of rare diseasesLong-term management strategies for pegvaliase use in phenylketonuria: Lessons learned from the phase-3 PRISM open-label extension study.
Genetics in medicine : official journal of the American College of Medical GeneticsEffects of exercise conducted prior to phenylketonuria-type meal on appetite, satiety hormones and energy expenditure: a randomised cross-over trial.
European journal of clinical nutritionTreatment of a metabolic liver disease in mice with a transient prime editing approach.
Nature biomedical engineeringEuropean guidelines on diagnosis and treatment of phenylketonuria: First revision.
Molecular genetics and metabolismThe association of plasma level of phenylalanine with inflammatory markers, insulin resistance, and atherosclerotic indexes in patients with phenylketonuria.
Journal of diabetes and metabolic disordersNovel Substituted Cyclic Compounds as SLC6A19 Inhibitors for Treating Phenylketonuria and Other Amino Acidurias.
ACS medicinal chemistry lettersGluN2B suppression restores phenylalanine-induced neuroplasticity and cognition impairments in a mouse model of phenylketonuria.
The Journal of clinical investigationAn Oxford Nanopore Technologies-Based Sequencing Assay for Molecular Diagnosis of Phenylketonuria and Variant Frequencies in a Turkish Cohort.
International journal of genomicsAgreement between the Amsterdam Neuropsychological Tasks and the Cambridge Neuropsychological Test Automated Battery in the assessment of PKU patients and healthy controls.
Molecular genetics and metabolismFrailty indices based on routinely collected data: a scoping review.
The Journal of frailty & agingEvaluating adverse events of pegvaliase-pqpz in phenylketonuria treatment: A comprehensive safety assessment.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Reply to Iqhrammullah, M. Comment on "Bokayeva et al. Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis. Int. J. Mol. Sci. 2024, 25, 5065".
- Comment on Bokayeva et al. Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis. Int. J. Mol. Sci. 2024, 25, 5065.
- Assessing the nutritional value and health risks of special low‑protein foods: narrative review.
- The prevalence of phenylketonuria (PKU) and hyperphenylalaninemia (HPA) in Iran: a systematic review and meta-analysis.
- Brain Age in Adult Patients With Early-Treated Phenylketonuria.
- Improved dietary control results in improvements in indices of white matter structure in adults with phenylketonuria: the ReDAPT study.
- Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria.
- Variant-dependent pharmacological rescue of phenylalanine hydroxylase supports a precision therapeutic strategy for phenylketonuria.
- Tandem Mass Spectrometry Fingerprint Tags (TMSFT) Applied for Early Gestation Noninvasive Prenatal Detection of Single-Gene Disorders.
- Long-Term Safety and Efficacy of Pegvaliase in Japanese Adults With Phenylketonuria: Final Results of a Phase III Trial.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:716(Orphanet)
- OMIM OMIM:261600(OMIM)
- MONDO:0009861(MONDO)
- Fenilcetonuria(PCDT · Ministério da Saúde)
- GARD:7383(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q194041(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
