ArticleMolecular genetics & genomic medicine2020
Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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11 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review.Behavioural neurology · 2022Pooled it
- 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
- Patient selection considerations for AADC deficiency gene therapy.Annals of the Child Neurology Society · 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
- 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
- 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
- Elucidating the Interaction between Pyridoxine 5'-Phosphate Oxidase and Dopa Decarboxylase: Activation of B6-Dependent Enzyme.International journal of molecular sciences · 2022Article
- AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.Journal of inherited metabolic disease · 2020Article
- Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive inherited disorder which is characterized by neurological and vegetative symptoms. To date, only 130 patients with AADCD have been reported worldwide.
methodsWe demonstrated 14 previously undescribed patients together with three reportedly patients in Mainland China. Full clinical information was collected, and disease-causing variants in the DDC gene were detected.
resultsThe common clinical manifestation of patients, including intermittent oculogyric crises, retarded movement development, and autonomic symptoms. Notably, a patient showed bone-density loss which have not been reported and two mildly phenotype patients improved psychomotor function after being prescribed medication. The most common genotype of Mainland Chinese AADCD is the splice-site variant (IVS6+4A> T; c.714+4A> T), which accounts for 58.8%, followed by c.1234C>T variant. Three novel compound heterozygous variants, c. 565G>T, c.170T>C, and c.1021+1G>A, were firstly reported. It is important to recognize the milder phenotypes of the disease as these patients might respond well to therapy. Besides, we discovered that patients may presented with milder if found to be compound heterozygote or homozygote for one of the following variants c.478C>G, c.853C>T, c.1123C>T, c.387G>A, and c.665T>C. DISCUSSION: The clinical data of the cohort of 17 patients in Mainland China broaden the clinical, molecular, and treatment spectrum of aromatic L-amino acid decarboxylase deficiency.
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