ArticleJIMD reports2015
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?
Article in JIMD reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 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 form of aromatic L-amino acid decarboxylase deficiency.BMJ case reports · 2026Article
- Phenylalanine-tyrosine-catecholamine axis disorders: pathways, molecular diagnosis, therapeutics, and emerging translational monitoring technologies.Frontiers in molecular biosciences · 2026Review
- Adult-Onset Levodopa-Unresponsive Parkinsonism as the Presenting Feature of Aromatic L-Amino Acid Decarboxylase Deficiency.European journal of case reports in internal medicine · 2026Article
- Genetic therapies for movement disorders - current status.Journal of neurology · 2025Review
- Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein.Journal of inherited metabolic disease · 2025Review
- Ophthalmate is a new regulator of motor functions via CaSR: implications for movement disorders.Brain : a journal of neurology · 2024Article
- An attenuated, adult case of AADC deficiency demonstrated by protein characterization.Molecular genetics and metabolism reports · 2024Article
- Article
- A position statement on the post gene-therapy rehabilitation of aromatic I-amino acid decarboxylase deficiency patients.Orphanet journal of rare diseases · 2024Article
- Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients' Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus.Behavioural neurology · 2024Article
- Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.Genes · 2023Review
- Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygousFrontiers in neurology · 2023Article
- Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population.International journal of molecular sciences · 2022Review
- Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment.Molecular genetics and metabolism reports · 2021Article
- 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
- Evaluation of 3-Molecular genetics and metabolism reports · 2021Article
- Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.International journal of molecular sciences · 2021Review
- Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus.Italian journal of pediatrics · 2021Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Two sisters were diagnosed in their adulthood with aromatic L-amino acid decarboxylase (AADC) deficiency (OMIM#608643). They experienced early myasthenia-like manifestations, myoclonic jerks, oculogyric crises, tremors, and developmental delay during childhood; clinical stabilization afterwards; and spontaneous improvement during adolescence and young adulthood. Two novel pathogenic mutations on DDC gene [p.Tyr37Thrfs*5 (c.105delC) and p.F237S (c.710 T>C)] were associated with undetectable enzyme activity in plasma and only a mild reduction of biogenic amines in cerebrospinal fluid (CSF). The increase of both 3-O-methyldopa and 5-hydroxytryptophan on CSF was the most relevant biochemical alteration denoting AADC defect in these subjects. Transdermal rotigotine remarkably improved their gross motor functions and the asthenic status they complained. The present cases broaden the phenotypic spectrum of AADC deficiency and suggest that (1) AADC defect is not a progressive neurological disease and behaves rather as a neurodevelopmental disorder that improves during the second decade of life; (2) treatment-naïve adults can still respond well to neurotransmitter therapy; and (3) the possibility of a mild presentation of AADC deficiency should be considered when examining young adults with asthenic and parkinsonian symptoms.
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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.