Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant
This study is the first to describe the clinical and molecular spectrum of Thai MSUD patients before the implementation of expanded NBS. The 11-kb deletion involving exon 1 in the BCKDHB emerges as the most common variant among Thai individuals with MSUD. Furthermore, the gap-PCR test for detecting the 11-kb exon 1 deletion status holds the potential for integration into stepwise molecular analysis following positive expanded newborn screening.
Authors
- Kanya Suphapeetiporn (ORCID: https://orcid.org/0000-0001-5679-7547)
- Arthaporn Khongkraparn
- Chulaluck Kuptanon (ORCID: https://orcid.org/0000-0003-4043-3794)
- Duangrurdee Wattanasirichaigoon (ORCID: https://orcid.org/0000-0003-2329-2176)
- Karn Wejaphikul (ORCID: https://orcid.org/0000-0002-3277-994X)
- Parith Wongkittichote (ORCID: https://orcid.org/0000-0002-7321-307X)
- GoHun Seo
- Khunton Wichajarn (ORCID: https://orcid.org/0000-0003-4324-7487)
- Thipwimol Tim‐Aroon (ORCID: https://orcid.org/0000-0001-8044-7993)
- Saisuda Noojarern
- Boonchai Boonyawat (ORCID: https://orcid.org/0000-0002-2968-5467)
- Panisara Lakkhana
Institutions
- Thai Red Cross Society (TH)
- Chulalongkorn University (TH)
- Mahidol University (TH)
- King Chulalongkorn Memorial Hospital (TH)
- Queen Sirikit National Institute of Child Health (TH)
- Phramongkutklao Hospital (TH)
- Songklanagarind Hospital (TH)
- Ramathibodi Hospital (TH)
- Chiang Mai University (TH)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-10-25
- DOI
- https://doi.org/10.1186/s13023-024-03411-7
- Citations
- 2
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.76
Funders
- Mahidol University