ArticleJIMD reports2018
Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan.
Article in JIMD reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons.Nature communications · 2021Trial
- Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency.Brain : a journal of neurology · 2019Trial
- The CRISPR-Cas9 knockout DDC SH-SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross-sectional structural and functional analysis.The FEBS journal · 2025Article
- Current clinical applications of AAV-mediated gene therapy.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Progress in AAV-Mediated In Vivo Gene Therapy and Its Applications in Central Nervous System Diseases.International journal of molecular sciences · 2025Review
- Advances in AAV-mediated gene replacement therapy for pediatric monogenic neurological disorders.Molecular therapy. Methods & clinical development · 2024Review
- Current developments of gene therapy in human diseases.MedComm · 2024Review
- Adeno-associated virus as a delivery vector for gene therapy of human diseases.Signal transduction and targeted therapy · 2024Review
- Automatically 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 : JAMIA · 2024Article
- Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study.Pediatric research · 2023Article
- Aromatic l-amino acid decarboxylase deficiency in Taiwan.JIMD reports · 2023Article
- Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.European journal of pediatrics · 2023Review
- Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency.Movement disorders clinical practice · 2023Article
- Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population.International journal of molecular sciences · 2022Review
- Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- Oculogyric crisis mimicked epilepsy in a Chinese aromatic L-amino acid decarboxylase-deficiency patient: A case report.Frontiers in neurology · 2022Article
- Clinical 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 genetics · 2021Article
- Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review.Acta neurologica Belgica · 2021Review
- Current Clinical Applications of In Vivo Gene Therapy with AAVs.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Review
- AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.Journal of inherited metabolic disease · 2020Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesAromatic L-amino acid decarboxylase (AADC) deficiency is a rare inherited disorder of monoamine neurotransmitter synthesis; this deficiency leads to psychomotor delay, hypotonia, oculogyric crises, dystonia, and extraneurological symptoms. This study aimed to provide further insight into the clinical course of AADC deficiency in Taiwan. PATIENTS AND
methodsWe present a retrospective, descriptive, single-center study of 37 children with a confirmed diagnosis of AADC deficiency. Their medical histories were reviewed for motor milestones, motor development, DDC mutation, and body weight. The termination point for each patient in this study was defined as no further follow-up, death, or enrollment in a gene therapy trial.
resultsThe median age of the study patients at the end of the study was 4.39 years (1.28-11.30). Of the 37 patients, 36 did not develop full head control, sitting ability, standing ability, or speech at any time point from birth to the termination points. Motor scales were administered to 22 patients. Their Alberta Infant Motor Scale scores were below the fifth percentile, and their Peabody Developmental Motor Scales, Second Edition, scores were below the first percentile. Their body weights were normal in the first few months of life, but severe growth retardation occurred at later ages. The mutation c.714+4A>T (IVS6+4A>T) accounted for 76% of all their DDC mutations.
conclusionIn this chapter, we report the clinical course of AADC deficiency in Taiwan. Our data will help guide the development of treatment strategies for the disease.
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