Long‐Term Follow‐Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review
Shaymaa Shurrab, Amira Mobarak, Gabriella Horvath, Sylvia Stocker‐Ipsiroglu, Clara van Karnebeek, Ramona Salvarinova‐Zivkovic · 2026
Read Long‐Term Follow‐Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review by Shaymaa Shurrab, Amira Mobarak, Gabriella Horvath, Sylvia Stocker‐Ipsiroglu, Clara van Karnebeek, Ramona Salvarinova‐Zivkovic (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13310582.txt.
Description
Shaymaa Shurrab and co-authors follow the first two reported cases of a rare metabolic disorder into the teen years in a 2026 article. The disorder stems from faults in the CA5A gene, which weaken a mitochondrial enzyme and trigger ammonia buildup, acid imbalance, and low blood sugar in newborns. Long-term course data were almost absent.
The sister, now 16, and her brother, now 14, both presented as newborns with ammonia-driven brain symptoms and the same gene change on both copies. The sister had three further illness-triggered crises, the last at age eight, an unusually late pattern, while her brother stayed stable. Glucose infusions, a single gut dose of carglumic acid, and at times vein lipids treated the crises. The authors chart management for such episodes.
Catalog record
| CREATOR | Shaymaa Shurrab, Amira Mobarak, Gabriella Horvath, Sylvia Stocker‐Ipsiroglu, Clara van Karnebeek, Ramona Salvarinova‐Zivkovic |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 111883 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |