ArticleJournal of human genetics2020
The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China.
Article in Journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 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
- Characterization of theAnimal biotechnology · 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
- Review
- Elucidating the Interaction between Pyridoxine 5'-Phosphate Oxidase and Dopa Decarboxylase: Activation of B6-Dependent Enzyme.International journal of molecular sciences · 2022Article
- Oculogyric crisis mimicked epilepsy in a Chinese aromatic L-amino acid decarboxylase-deficiency patient: A case report.Frontiers in neurology · 2022Article
- Case report: First case report of an Emirati child with a novel gene variant causing aromatic L-amino acid decarboxylase deficiency.Frontiers in pediatrics · 2022Article
- Case report: Aromatic L-amino acid decarboxylase deficiency in three patient cases from the Kingdom of Saudi Arabia.Frontiers in pediatrics · 2022Article
- A genetic correlation and bivariate genome-wide association study of grip strength and depression.PloS one · 2022Article
- Evaluation of 3-Molecular genetics and metabolism reports · 2021Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare neurotransmitter metabolic disorder caused by DDC gene mutations, which leads to the metabolic disturbance of dopamine and serotonin. Most of the reported cases came from Taiwan China, but patients from mainland China were seldomly reported. The current study was the largest AADCD patient cohort from mainland China. Twenty-three patients with clinical features of AADCD and DDC gene variants were recruited. A total of 16 DDC variants were identified in this study, of which four variants (c.2T>C, c.277A>G, c.1021+1G>A, c.565G>T) were never reported previously. The intronic variant c.714+4A>T was the most common one, with an allele frequency of 45.7%. And patients carried this intronic variant presented with severe clinical manifestations, all of whom were bedridden. In this study, the average onset age was 3.61 ± 1.28 months and the average age of diagnosis was 12.91 ± 5.62 months. Early onset hypotonia, oculogyric crises, and autonomic symptoms such as excessive sweating, nasal congestion and profuse nasal, and oropharyngeal secretions, were common in our patients. Eighteen patients (78.3%) got various degree of improvement after using pyridoxine monotherapy or different combination of pyridoxine, dopamine agonists, and monoamine oxidase (MAO) inhibitors.
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