Aromatic l‐amino acid decarboxylase deficiency in Taiwan
Abstract Aromatic l‐amino acid decarboxylase (AADC) deficiency is a rare inherited disorder that affects neurotransmitter biosynthesis. A DDC founder mutation c.714 + 4A > T (IVS6 + 4A > T) is prevalent in the Chinese population. This study investigated the epidemiology of AADC deficiency in T...
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| Format: | Article |
| Language: | English |
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Wiley
2023-09-01
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| Series: | JIMD Reports |
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| Online Access: | https://doi.org/10.1002/jmd2.12387 |
| _version_ | 1797690222868168704 |
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| author | Wuh‐Liang Hwu Rai‐Hseng Hsu Mei‐Hsin Li Hui‐Min Lee Hui‐An Chen Ni‐Chung Lee Yin‐Hsiu Chien |
| author_facet | Wuh‐Liang Hwu Rai‐Hseng Hsu Mei‐Hsin Li Hui‐Min Lee Hui‐An Chen Ni‐Chung Lee Yin‐Hsiu Chien |
| author_sort | Wuh‐Liang Hwu |
| collection | DOAJ |
| description | Abstract Aromatic l‐amino acid decarboxylase (AADC) deficiency is a rare inherited disorder that affects neurotransmitter biosynthesis. A DDC founder mutation c.714 + 4A > T (IVS6 + 4A > T) is prevalent in the Chinese population. This study investigated the epidemiology of AADC deficiency in Taiwan by analyzing data from National Taiwan University Hospital (NTUH), a central institution for diagnosing and treating the disease. From January 2000 to March 2023, 77 patients with AADC deficiency visited NTUH. Among them, eight were international patients seeking a second opinion, and another two had one or both non‐Chinese parents; all others were ethnically Chinese. The c.714 + 4A > T mutation accounted for 85% of all mutated alleles, and 94% of patients exhibited a severe phenotype. Of the 77 patients, 31 received gene therapy at a mean age of 3.76 years (1.62–8.49) through clinical trials, and their current ages were significantly older than those of the remaining patients. Although the combined incidence of AADC deficiency in this study (1:66491 for 2004 and later) was lower than that reported in newborn screening (1:31997 to 1:42662), case surges coincided with the launch of clinical trials and the implementation of newborn screening. Currently, many young patients are awaiting for treatment. |
| first_indexed | 2024-03-12T01:56:26Z |
| format | Article |
| id | doaj.art-ac450df762eb41cb9f86727b17781976 |
| institution | Directory Open Access Journal |
| issn | 2192-8312 |
| language | English |
| last_indexed | 2024-03-12T01:56:26Z |
| publishDate | 2023-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | JIMD Reports |
| spelling | doaj.art-ac450df762eb41cb9f86727b177819762023-09-08T04:48:16ZengWileyJIMD Reports2192-83122023-09-0164538739210.1002/jmd2.12387Aromatic l‐amino acid decarboxylase deficiency in TaiwanWuh‐Liang Hwu0Rai‐Hseng Hsu1Mei‐Hsin Li2Hui‐Min Lee3Hui‐An Chen4Ni‐Chung Lee5Yin‐Hsiu Chien6Department of Pediatrics National Taiwan University Hospital Taipei TaiwanDepartment of Medical Genetics National Taiwan University Hospital Taipei TaiwanDepartment of Medical Genetics National Taiwan University Hospital Taipei TaiwanDepartment of Medical Genetics National Taiwan University Hospital Taipei TaiwanDepartment of Pediatrics National Taiwan University Hospital Taipei TaiwanDepartment of Pediatrics National Taiwan University Hospital Taipei TaiwanDepartment of Pediatrics National Taiwan University Hospital Taipei TaiwanAbstract Aromatic l‐amino acid decarboxylase (AADC) deficiency is a rare inherited disorder that affects neurotransmitter biosynthesis. A DDC founder mutation c.714 + 4A > T (IVS6 + 4A > T) is prevalent in the Chinese population. This study investigated the epidemiology of AADC deficiency in Taiwan by analyzing data from National Taiwan University Hospital (NTUH), a central institution for diagnosing and treating the disease. From January 2000 to March 2023, 77 patients with AADC deficiency visited NTUH. Among them, eight were international patients seeking a second opinion, and another two had one or both non‐Chinese parents; all others were ethnically Chinese. The c.714 + 4A > T mutation accounted for 85% of all mutated alleles, and 94% of patients exhibited a severe phenotype. Of the 77 patients, 31 received gene therapy at a mean age of 3.76 years (1.62–8.49) through clinical trials, and their current ages were significantly older than those of the remaining patients. Although the combined incidence of AADC deficiency in this study (1:66491 for 2004 and later) was lower than that reported in newborn screening (1:31997 to 1:42662), case surges coincided with the launch of clinical trials and the implementation of newborn screening. Currently, many young patients are awaiting for treatment.https://doi.org/10.1002/jmd2.12387AADCaromatic l‐amino acid decarboxylaseChineseDDCincidenceTaiwan |
| spellingShingle | Wuh‐Liang Hwu Rai‐Hseng Hsu Mei‐Hsin Li Hui‐Min Lee Hui‐An Chen Ni‐Chung Lee Yin‐Hsiu Chien Aromatic l‐amino acid decarboxylase deficiency in Taiwan JIMD Reports AADC aromatic l‐amino acid decarboxylase Chinese DDC incidence Taiwan |
| title | Aromatic l‐amino acid decarboxylase deficiency in Taiwan |
| title_full | Aromatic l‐amino acid decarboxylase deficiency in Taiwan |
| title_fullStr | Aromatic l‐amino acid decarboxylase deficiency in Taiwan |
| title_full_unstemmed | Aromatic l‐amino acid decarboxylase deficiency in Taiwan |
| title_short | Aromatic l‐amino acid decarboxylase deficiency in Taiwan |
| title_sort | aromatic l amino acid decarboxylase deficiency in taiwan |
| topic | AADC aromatic l‐amino acid decarboxylase Chinese DDC incidence Taiwan |
| url | https://doi.org/10.1002/jmd2.12387 |
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