A novel HMBS gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings

A novel HMBS gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings

BackgroundAcute intermittent porphyria (AIP) is a rare metabolic disorder resulting from defects in the heme biosynthesis pathway, often presenting with non-specific symptoms such as abdominal pain, seizures, and neuropsychiatric disturbances. Diagnosis is challenging due to the overlap of symptoms...

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Bibliographic Details
Main Authors: Wentao Dong, Bingliang Zeng, Xiaolian Wang, Rui Zhang, Pei Huang, Bing Fan, Min Yuan, Zicong Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-03-01
Series:Frontiers in Genetics
Subjects:
HMBS gene mutation
abdominal pain
seizures
neuroimaging
acute intermittent porphyria
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1551832/full
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