A novel HMBS gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings
This case underscores the importance of early diagnosis and management in AIP. Genetic testing plays a crucial role in confirming the diagnosis, especially in atypical cases. Timely intervention with glucose and heme arginate, combined with supportive care, led to rapid symptom resolution, reinforcing the reversibility of AIP-associated neuroimaging changes. Clinicians should maintain a high index of suspicion for AIP in patients with unexplained abdominal and neurological symptoms to prevent long-term complications.
Authors
- Bingliang Zeng (ORCID: https://orcid.org/0000-0001-5446-1644)
- Rui Zhang (ORCID: https://orcid.org/0000-0002-3567-0421)
- Wentao Dong (ORCID: https://orcid.org/0000-0001-5490-4265)
- Zicong Li (ORCID: https://orcid.org/0000-0002-6997-4669)
- Bing Fan
- Huang Pei (ORCID: https://orcid.org/0000-0002-5239-9565)
- Min Yuan (ORCID: https://orcid.org/0009-0005-3276-2151)
- Xiaolian Wang (ORCID: https://orcid.org/0009-0007-1158-0871)
Institutions
- Nanchang University (CN)
- First Affiliated Hospital of Jiangxi Medical College (CN)
- Jiangxi Provincial People's Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-03-05
- DOI
- https://doi.org/10.3389/fgene.2025.1551832
- Primary Topic
- Porphyrin Metabolism and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00