Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review
This article reports a case of adolescent onset HCSD and cobalamin C deficiency. Treatment with hydroxocobalamin, betaine, and biotin is effective. Two novel mutations in the HLCS gene causative for HCSD have been reported, providing a broader foundation for mutational screening and offering insights into the diagnosis and treatment of similar disorders.
Authors
- Jinhua Cai (ORCID: https://orcid.org/0000-0003-0812-1432)
- Hongxing Dang
- Jing Li (ORCID: https://orcid.org/0000-0003-4613-260X)
- Chengjun Liu (ORCID: https://orcid.org/0000-0002-4156-0181)
- Yueqiang Fu (ORCID: https://orcid.org/0009-0003-8840-1879)
- Ye Ren (ORCID: https://orcid.org/0000-0002-6424-6304)
Institutions
- China International Science and Technology Cooperation (CN)
- Chongqing Maternal and Child Health Hospital (CN)
- Children's Hospital of Chongqing Medical University (CN)
- Chongqing Medical University (CN)
Publication Details
- Journal
- Metabolism Open
- Published
- 2025-03-23
- DOI
- https://doi.org/10.1016/j.metop.2025.100361
- Primary Topic
- Folate and B Vitamins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Chongqing Medical University