A deficiência da descarboxilase de L-aminoácidos aromáticos é uma doença genética neurometabólica muito rara e grave. Ela está associada a sintomas clínicos que surgem devido à pouca produção de serotonina e dopamina no corpo. Os principais sinais incluem fraqueza muscular (hipotonia), movimentos lentos e reduzidos (hipocinesia), pálpebras caídas (ptose), crises em que os olhos se movem para cima de forma involuntária (crises oculógiras) e outros problemas relacionados ao controle automático de funções do corpo (disfunção autonômica).
Introdução
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A deficiência da descarboxilase de L-aminoácidos aromáticos é uma doença genética neurometabólica muito rara e grave. Ela está associada a sintomas clínicos que surgem devido à pouca produção de serotonina e dopamina no corpo. Os principais sinais incluem fraqueza muscular (hipotonia), movimentos lentos e reduzidos (hipocinesia), pálpebras caídas (ptose), crises em que os olhos se movem para cima de forma involuntária (crises oculógiras) e outros problemas relacionados ao controle automático de funções do corpo (disfunção autonômica).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 31 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 62 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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 decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine and L-5-hydroxytryptophan to serotonin
Aromatic L-amino-acid decarboxylase deficiency
An inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia, gastrointestinal disturbances. The onset is early in infancy and inheritance is autosomal recessive.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
139 variantes patogênicas registradas no 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 — Deficiência de L-aminoácidos aromáticos descarboxilase
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
10 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up.
Aromatic ʟ-amino acid decarboxylase (AADC) deficiency is a rare pediatric neurotransmitter disorder that typically necessitates lifelong care, and that carries a risk of childhood mortality. Eladocagene exuparvovec gene therapy is designed to restore AADC production. Study GT-002 (NCT04903288) is a phase 2, multicenter, open-label trial assessing the pharmacodynamics, safety, and efficacy of eladocagene exuparvovec administered to the putamen bilaterally in pediatric patients with AADC deficiency using a magnetic resonance (MR)-compatible cannula. Patients received eladocagene exuparvovec at 1.8 × 1011 vector genomes via the SmartFlow MR-compatible cannula in a single operative session. Endpoints include the change from baseline in cerebrospinal fluid homovanillic acid levels, motor milestone achievement, and safety. Here we report results from 48 weeks of follow-up. Mean (SD) cerebrospinal fluid homovanillic acid levels increased from baseline (22.5 [32.3] nmol/L; n = 13) to week 48 (55.3 [45.6] nmol/L; change from baseline: 28.3 [13.7] nmol/L; p = 0.0003; n = 9), indicating de novo dopamine production. At baseline (n = 13), all patients showed severe motor developmental delay; at week 48 (n = 12), nine achieved full head control, four could sit unassisted, two could stand with support, and two could walk independently to a toy. Overall, 260 treatment-emergent adverse events were reported in 13 patients; 259 were deemed unrelated and one likely unrelated to the MR-compatible cannula. No treatment-emergent adverse events led to study withdrawal and no deaths occurred. This study provides further evidence of the favorable pharmacodynamic, efficacy, and safety profile of eladocagene exuparvovec in children with AADC deficiency; intraputaminal administration using an MR-compatible cannula was well tolerated. Study GT-002 (NCT04903288) provides further evidence of the favourable pharmacodynamic, efficacy and safety profile of eladocagene exuparvovec gene therapy in children with AADC deficiency over 48 weeks and demonstrates that intraputaminal administration using an MR-compatible cannula was well tolerated, allowing for real-time MRI confirmation of cannula placement and infusate coverage, and for accurate dosing to the putamen.
mGem: AAV, from almost a virus to an awesome vector-or is it?
Adeno-associated virus (AAV) vectors have taken center stage for gene therapy and have shown clinical efficacy in 15 human diseases to date. The Food and Drug Administration has approved seven AAV "drugs" for one-time treatment respectively for Leber's congenital amaurosis, spinal muscular atrophy, hemophilia B, Duchenne muscular dystrophy, hemophilia A, and aromatic L-amino acid decarboxylase deficiency. Despite these remarkable developments, it has become increasingly clear that the first generation of AAV vectors is less than optimal since in most, if not all, cases, exceedingly high doses are needed to achieve clinical efficacy, and as a consequence, in some patients, serious adverse events have been observed, and to date, at least 21 patients have died. Thus, there is a need to reassess the limitations of the first generation of AAV vectors as well as an urgent need to develop the next generation of AAV vectors that are safe and effective.
Eladocagene Exuparvovec for the Treatment of Aromatic L-Amino Acid Decarboxylase Deficiency (AADCd): An Economic Evaluation from a US Perspective.
Recently, the gene therapy eladocagene exuparvovec received accelerated approval from the US Food and Drug Administration (as eladocagene exuparvovec-tneq) for treatment of aromatic L-amino acid decarboxylase deficiency (AADCd), a rare, infantile-onset disorder characterized by developmental delays. To conduct a US, modified societal perspective cost-utility analysis comparing eladocagene exuparvovec versus best supportive care (BSC). Multistate survival modeling was implemented tracking disease progression from a "no motor function" health state to achievement of motor-function improvements, measured by: (1) multiples of the meaningful score difference (MSD) of the Peabody Developmental Motor Scales-Second Edition (PDMS-2) total score and (2) motor milestones. Eladocagene exuparvovec trials informed clinical inputs. Health-state utilities were from a US time-trade-off study that valued AADCd quality-of-life impacts. Outcomes were discounted (3%); costs were reported in 2024 US dollars. Scenario analyses, characterizing alternative approaches of the multistate survival model analyses and probabilistic sensitivity analysis to assess the impact of parameter uncertainty, were conducted. Discounted incremental quality-adjusted life-years (QALYs) for eladocagene exuparvovec were 20.83 (multiples of the MSD of total PDMS-2) and 18.44 (motor milestones). Incremental cost per QALY ranged from $199,007-$224,104. The scenario and sensitivity analyses results supported the validity of the base case analysis. Eladocagene exuparvovec is associated with considerable QALY gains compared with BSC. Within the context of other ultra-rare and/or one-time treatments, eladocagene exuparvovec provides substantial clinical improvements at lower cost than many other rare-disease treatments. Findings from this study highlight that eladocagene exuparvovec is an important treatment option for patients with AADCd.
Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India.
Neurotransmitter disorders are a group of heterogeneous conditions that comprise defects in synthesis, transport, receptor binding, and degradation of neurochemical messengers. These rare disorders range from mild intermittent dystonia to lethal encephalopathies. The natural history and clinical presentation remain far from established. The study was conducted between October 2015 and September 2024. This study aims to describe the spectrum of clinical presentation, laboratory, imaging features, and genetic profiles of children diagnosed with neurotransmitter disorders and to assess the treatment modalities and clinical outcomes in these children. Among 29 patients, the median age was 12 months, with a male predominance. Positive family history was noted in 9 cases. The most frequent presentation was global developmental delay (GDD), dystonia, and seizures with autonomic disturbances, with diurnal variation. Various subcategories of neurotransmitter disorders are aromatic L amino acid decarboxylase deficiency-7 cases, tyrosine hydroxylase deficiency-3 cases, dopamine transporter deficiency syndrome-1 case, vesicular monoamine transporter 2 deficiency (VMAT2)-2 cases, GTP cyclohydrolase type deficiency-1 case, 6-pyruvoyl-tetrahydropterin synthase deficiency-1 case, dihydropteridine reductase deficiency-3, sepiapterin reductase deficiency-1 case, glycine encephalopathy-1 case, FOLR1-related cerebral folate transport deficiency-3 cases, and succinic semialdehyde dehydrogenase deficiency-5 cases. Metabolic workups were normal in all cases, with elevated phenylalanine levels in tandem mass spectrometry (TMS) in 5 children. Neuroimaging and electroencephalogram (EEG) were abnormal in 7 and 5 children, respectively. Multi-pronged and early treatment ensured better outcomes in these children. The most common type of neurotransmitter disorder in our series was aromatic L-amino acid decarboxylase deficiency, with the most common presentation being global developmental delay and dystonia.
Progress in AAV-Mediated In Vivo Gene Therapy and Its Applications in Central Nervous System Diseases.
As the blood-brain barrier (BBB) prevents molecules from accessing the central nervous system (CNS), the traditional systemic delivery of chemical drugs limits the development of neurological drugs. However, in recent years, innovative therapeutic strategies have tried to bypass the restriction of traditional drug delivery methods. In vivo gene therapy refers to emerging biopharma vectors that carry the specific genes and target and infect specific tissues; these infected cells and tissues then undergo fundamental changes at the genetic level and produce therapeutic proteins or substances, thus providing therapeutic benefits. Clinical and preclinical trials mainly utilize adeno-associated viruses (AAVs), lentiviruses (LVs), and other viruses as gene vectors for disease investigation. Although LVs have a higher gene-carrying capacity, the vector of choice for many neurological diseases is the AAV vector due to its safety and long-term transgene expression in neurons. Here, we review the basic biology of AAVs and summarize some key issues in recombinant AAV (rAAV) engineering in gene therapy research; then, we summarize recent clinical trials using rAAV treatment for neurological diseases and provide translational perspectives and future challenges on target selection.
Publicações recentes
Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up.
mGem: AAV, from almost a virus to an awesome vector-or is it?
Frameless intraputaminal delivery of gene therapy with eladocagene exuparvovec in patients with aromatic L-amino acid decarboxylase deficiency: safe and efficient results.
Eladocagene Exuparvovec for the Treatment of Aromatic L-Amino Acid Decarboxylase Deficiency (AADCd): An Economic Evaluation from a US Perspective.
Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India.
📚 EuropePMC103 artigos no totalmostrando 103
Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up.
Journal of inherited metabolic diseasemGem: AAV, from almost a virus to an awesome vector-or is it?
mBioFrameless intraputaminal delivery of gene therapy with eladocagene exuparvovec in patients with aromatic L-amino acid decarboxylase deficiency: safe and efficient results.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryEladocagene Exuparvovec for the Treatment of Aromatic L-Amino Acid Decarboxylase Deficiency (AADCd): An Economic Evaluation from a US Perspective.
PharmacoEconomicsTreatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India.
Brain & developmentAnesthetic management of a child with aromatic L-amino acid decarboxylase deficiency: A case report.
Saudi journal of anaesthesiaProgress in AAV-Mediated In Vivo Gene Therapy and Its Applications in Central Nervous System Diseases.
International journal of molecular sciencesEladocagene Exuparvovec for Aromatic L-Amino Acid Decarboxylase Deficiency.
JAMAAnesthesia management for dental procedures in a patient with aromatic L-amino acid decarboxylase deficiency: a case report.
Journal of dental anesthesia and pain medicineClinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) and correlation with Bayley-III scores and motor milestones.
Orphanet journal of rare diseasesCase Series of Anesthetic Management of Gene Therapy in Children With Aromatic L-Amino Acid Decarboxylase Deficiency.
Paediatric anaesthesiaEstimating health state utilities for aromatic L-amino acid decarboxylase deficiency (AADCd) in the United States.
Health and quality of life outcomesREVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and In Silico Structural Modeling of One Index Case.
Genetic testing and molecular biomarkersOptimizing the anesthetic care of patients with aromatic l-amino acid decarboxylase deficiency.
Paediatric anaesthesiaNigrostriatal tract defects in mice with aromatic l-amino acid decarboxylase deficiency.
Neurobiology of diseaseImmune responses to central nervous system directed adeno-associated virus gene therapy: Does direct CNS delivery make a difference?
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsAdult-onset focal hand dystonia in aromatic L-amino acid decarboxylase deficiency.
Parkinsonism & related disordersRecent and anticipated novel drug approvals (Q2 2024 through Q1 2025).
American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System PharmacistsEmerging therapies for childhood-onset movement disorders.
Current opinion in pediatricsNewborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.
Molecular genetics and metabolismAromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders.
GenesDetection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling.
Journal of human geneticsNovel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises: A case report.
HeliyonAutomatically pre-screening patients for the rare disease aromatic l-amino acid decarboxylase deficiency using knowledge engineering, natural language processing, and machine learning on a large EHR population.
Journal of the American Medical Informatics Association : JAMIAAdeno-associated virus-mediated gene therapy for rare pediatric neurogenetic diseases: Current status and outlook.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesNeurodegenerative Etiology of Aromatic L-Amino Acid Decarboxylase Deficiency: a Novel Concept for Expanding Treatment Strategies.
Molecular neurobiologyAdeno-associated viruses for gene therapy - clinical implications and liver-related complications, a guide for hepatologists.
Journal of hepatologyLong-Term Outcomes of Eladocagene Exuparvovec Compared with Standard of Care in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Modelling Study.
Advances in therapyAromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders.
GenesAromatic l-amino acid decarboxylase deficiency in Taiwan.
JIMD reportsCatecholamines and Parkinson's disease: tyrosine hydroxylase (TH) over tetrahydrobiopterin (BH4) and GTP cyclohydrolase I (GCH1) to cytokines, neuromelanin, and gene therapy: a historical overview.
Journal of neural transmission (Vienna, Austria : 1996)Streamlined determination of 3-O-methyldopa in dried blood spots: Prospective screening for aromatic l-amino-acid decarboxylase deficiency.
Molecular genetics and metabolismGene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up.
Journal of inherited metabolic diseaseExome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders.
Biochemical and biophysical research communicationsCarrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study.
Pediatric researchIntraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency.
Movement disorders clinical practiceAromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
European journal of pediatricsCorrigendum to " Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry" [32/100888 (2022) page 1-4].
Molecular genetics and metabolism reportsAAV vectors applied to the treatment of CNS disorders: Clinical status and challenges.
Journal of controlled release : official journal of the Controlled Release SocietyCase report: Aromatic L-amino acid decarboxylase deficiency in three patient cases from the Kingdom of Saudi Arabia.
Frontiers in pediatricsMild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl.
Journal of clinical research in pediatric endocrinologyAAV2-hAADC (Eladocagene Exuparvovec) Biodistribution and Expression: Superiority of Intraputaminal versus Intracerebroventricular and Intrathecal (Lumbar) Routes of Administration.
International journal of toxicologyCorrigendum to "Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases" [27/100744/2021/ pages: 1-4].
Molecular genetics and metabolism reportsStrategies to improve safety profile of AAV vectors.
Frontiers in molecular medicineAdeno-associated virus vector-based gene therapies for pediatric diseases.
Pediatrics and neonatologyOculogyric crisis mimicked epilepsy in a Chinese aromatic L-amino acid decarboxylase-deficiency patient: A case report.
Frontiers in neurologyCase report: First case report of an Emirati child with a novel gene variant causing aromatic L-amino acid decarboxylase deficiency.
Frontiers in pediatricsLong-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency.
Parkinsonism & related disordersBiochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry.
Molecular genetics and metabolism reportsBurden of illness of aromatic L-amino acid decarboxylase deficiency: a survey of physicians in Southern Europe.
Current medical research and opinionBurden and severity of disease of aromatic L-amino acid decarboxylase deficiency: a systematic literature review.
Current medical research and opinionClinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
Scientific reportsAnaesthesia management of a child with aromatic L-amino acid decarboxylase deficiency.
Anaesthesia reportsA Discrete Choice Experiment to Derive Health Utilities for Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency in France.
Patient related outcome measuresLong-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency.
Molecular therapy : the journal of the American Society of Gene TherapyReduced Immunogenicity of Intraparenchymal Delivery of Adeno-Associated Virus Serotype 2 Vectors: Brief Overview.
Current gene therapyCerebrospinal Fluid Biogenic Monoamine Analysis for Diagnosis of Primary Neurotransmitter Disorders.
Indian journal of pediatricsNovel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype.
Brain & developmentDopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic l-amino acid decarboxylase deficiency.
Brain communicationsThe impact of caring for an individual with aromatic l-amino acid decarboxylase (AADC) deficiency: a qualitative study and the development of a conceptual model.
Current medical research and opinionGene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons.
Nature communicationsUrine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area.
Clinica chimica acta; international journal of clinical chemistrySymptoms and impact of aromatic l-amino acid decarboxylase (AADC) deficiency: a qualitative study and the development of a patient-centred conceptual model.
Current medical research and opinionBlood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment.
Molecular genetics and metabolism reportsClinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy.
Journal of pediatric geneticsEvaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases.
Molecular genetics and metabolism reportsDetection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience.
Molecular genetics and metabolismAromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies.
Brain : a journal of neurologyAromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus.
Italian journal of pediatricsDeriving Vignettes for the Rare Disease AADC Deficiency Using Parent, Caregiver and Clinician Interviews to Evaluate the Impact on Health-Related Quality of Life.
Patient related outcome measuresNovel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Movement disorders : official journal of the Movement Disorder SocietyAnesthesia Management for Cesarean Delivery in a Woman With Aromatic L-Amino Acid Decarboxylase Deficiency: A Case Report.
A&A practiceViral-Mediated Gene Replacement Therapy in the Developing Central Nervous System: Current Status and Future Directions.
Pediatric neurologySemi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency.
Molecular genetics and metabolismThe genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China.
Journal of human geneticsAADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
Journal of inherited metabolic diseasePrevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
Pediatric neurologyAromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview.
Molecular genetics & genomic medicineRecurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency.
NeuropediatricsTargeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.
Journal of inherited metabolic diseaseCase report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblings.
BMC neurologyHigh throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.
Journal of inherited metabolic disease[Clinical and genetic analysis of two pedigrees affected with aromatic L-amino acid decarboxylase deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsModified Frameless Stereotactic System for Intracerebral Delivery of Viral Vector in Young Children.
Operative neurosurgery (Hagerstown, Md.)Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency.
Annals of neurologyElectrical Abnormalities in Dopaminergic Neurons of the Substantia Nigra in Mice With an Aromatic L-Amino Acid Decarboxylase Deficiency.
Frontiers in cellular neuroscienceGene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency.
Brain : a journal of neurologyA review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan.
American journal of medical genetics. Part C, Seminars in medical geneticsAcceleration of rare disease therapeutic development: a case study of AGIL-AADC.
Drug discovery todayAntisense oligonucleotides modulate dopa decarboxylase function in aromatic l-amino acid decarboxylase deficiency.
Human mutationEfficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial.
The Lancet. Child & adolescent healthA novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency.
Brain & developmentUrinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Scientific reportsNatural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan.
JIMD reportsGene therapy with modified U1 small nuclear RNA.
Expert review of endocrinology & metabolismConsensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Orphanet journal of rare diseasesGene therapy for Parkinson's disease.
Nihon rinsho. Japanese journal of clinical medicineSimultaneous measurement of monoamine metabolites and 5-methyltetrahydrofolate in the cerebrospinal fluid of children.
Clinica chimica acta; international journal of clinical chemistryMicrostructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiency.
Human brain mappingA female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition.
Brain & development3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.
Molecular genetics and metabolismUrinary Metabolomics Reveals Alterations of Aromatic Amino Acid Metabolism of Alzheimer's Disease in the Transgenic CRND8 Mice.
Current Alzheimer researchAromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.
Molecular genetics and metabolismAssociações
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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.
- Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up.
- mGem: AAV, from almost a virus to an awesome vector-or is it?
- Eladocagene Exuparvovec for the Treatment of Aromatic L-Amino Acid Decarboxylase Deficiency (AADCd): An Economic Evaluation from a US Perspective.
- Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India.
- Progress in AAV-Mediated In Vivo Gene Therapy and Its Applications in Central Nervous System Diseases.
- Frameless intraputaminal delivery of gene therapy with eladocagene exuparvovec in patients with aromatic L-amino acid decarboxylase deficiency: safe and efficient results.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:35708(Orphanet)
- OMIM OMIM:608643(OMIM)
- MONDO:0012084(MONDO)
- GARD:770(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q30989658(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
