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Article

A novel mutation, IVS2-2AgG, associated with acute intermittent porphyria in a Chinese family.

JPMA. The Journal of the Pakistan Medical Association - 1 Aug 2015

Jiao Huang, Xianfeng Zhang, Hui Han, Yuhong Zhan, Chu Zhang

Abstract excerpt

Porphyria is a group of disorders caused by the accumulation of porphyrin and porphyrin precursors due to the abnormalities in certain enzymes that normally participate in the production of haem. We report a case of a woman with severe menstruation-related abdominal pain, hyponatraemia, and psychiatric symptoms. Excessive porphobilinogen was found in her urine. A new mutation in intron 2 (IVS2-2Ag→G), which had...

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PMID: 26228342

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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