Outcomes of cases with elevated 3-hydroxyisovaleryl carnitine report from the newborn screening program
These findings indicate that relying solely on C5OH levels from newborn screening is insufficient for making accurate diagnoses or predictions regarding C5OH-related disorders. Further comprehensive evaluation and consideration of additional factors are essential for accurate diagnosis, management and outcome.
Authors
- Fuad Al Mutairi (ORCID: https://orcid.org/0000-0002-7780-8863)
- Randa Alkhalaf
- Majid Alfadhel (ORCID: https://orcid.org/0000-0002-9427-7240)
- Ali Al Othaim
- Abdul Rafiq Khan
Institutions
- King Saud bin Abdulaziz University for Health Sciences (SA)
- King Abdulaziz Medical City (SA)
- National Guard Health Affairs (SA)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2024-10-13
- DOI
- https://doi.org/10.1016/j.ymgmr.2024.101153
- Citations
- 1
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.38
Funders
- King Abdullah International Medical Research Center
- King Saud bin Abdulaziz University for Health Science