ArticleJIMD reports2014
Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis.
Article in JIMD reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review.Behavioural neurology · 2022Pooled it
- Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency.Brain : a journal of neurology · 2019Trial
- Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein.Journal of inherited metabolic disease · 2025Review
- Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old GirlJournal of clinical research in pediatric endocrinology · 2024Article
- 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
- Pathogenic Impact of Fatty Acid-Binding Proteins in Parkinson's Disease-Potential Biomarkers and Therapeutic Targets.International journal of molecular sciences · 2023Review
- Burden of illness in aromatic l-amino acid decarboxylase deficiency.Annals of the Child Neurology Society · 2023Article
- 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
- Evaluation of 3-Molecular genetics and metabolism reports · 2021Article
- Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus.Italian journal of pediatrics · 2021Article
- Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview.Molecular genetics & genomic medicine · 2020Article
- Case report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblings.BMC neurology · 2020Article
- Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike.Journal of Korean medical science · 2018Article
- Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.Orphanet journal of rare diseases · 2017Review
- Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients.JIMD reports · 2017Article
- Nonmotor Symptoms in Dopa-Responsive Dystonia.Movement disorders clinical practice · 2015Review
Corrections and comments
- Erratum issued
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesAromatic amino acid decarboxylase deficiency presents with prominent extrapyramidal and autonomic features and CSF monoamine deficiency with increased 3-O-methyldopa, a by-product of accumulated L-DOPA. Less than 100 cases have been identified. The disease is typically associated with a severe phenotype and worse prognosis in females. Gene transfer technology has been implemented using an adeno-associated virus encoding AADC in the putamen bilaterally.
methodsWe describe the phenotype/genotype in a cohort of five cases showing a heterogeneous phenotype and variably intact response to pharmacologic therapy.
resultsFive patients (age range 2-10 years, mean 5 years, 3M/2F) with confirmed AADC deficiency are described. Four (3M/1F) have had improvement on combinations of dopaminergic agonists, MAO inhibitors, pyridoxine/P5P, and folinic acid. Each presented with hypotonia, decreased voluntary movement, dystonia, irritability, and oculogyric crises. Two (1M/1F) are independently ambulatory and are not dependent on gastrostomy tube feedings; the 9-year-old girl is reading single words. One female has a severe phenotype including recurrent hypoglycemic events associated with bradycardia, although the latter have resolved with chronic anticholinergic therapy. One Taiwanese boy had the common homozygous mutation, and otherwise we describe five new DDC mutations.
conclusionsWe report a wider phenotypic spectrum including intact response to pharmacologic management and milder outcome in a female, as well as five new mutations. Four of five patients have improved on combination therapy including a dopamine agonist, MAO inhibitor, pyridoxal-5'-phosphate, and folinic acid. The advent of viral-mediated gene therapy in AADC deficiency renders expanded knowledge of the outcome increasingly important.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.