A novel homozygous CA5A gene deletion in carbonic anhydrase VA deficiency presenting as developmental delay without metabolic crisis
CA-VA deficiency may present with non-specific neurodevelopmental delay without metabolic decompensation. Genetic analysis remains the cornerstone for identifying atypical cases with novel mutations in a rare disease and recognition of this atypical presentation is essential for awareness of the disease.
Authors
- Aziza Mufareh Mushiba (ORCID: https://orcid.org/0000-0001-5795-6423)
- Saad Aldalaqan
- Mohammed A. A. Saleh (ORCID: https://orcid.org/0000-0002-0517-6051)
- Abdul Peer-Zada
- Eissa A. Faqeih
- Ali M. Alasmari
- Maryam F. Bin Hadyan
Institutions
- King Fahd Medical City (SA)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2026-02-17
- DOI
- https://doi.org/10.1016/j.ymgmr.2026.101294
- Primary Topic
- Enzyme function and inhibition
- Type
- article
- Field-Weighted Citation Impact
- 0.00