A novel mutation, IVS2-2A_G, associated with acute intermittent porphyria in a chinese family. | [Journal of Pakistan Medical Association • 2015]

Author(s):

1. Huang Jiao: Department of Endocrinology and Metabolism, Hangzhou First People’s Hospital, Nanjing Medical University, Hangzhou, China

2. Zhang Xianfeng: Department of Endocrinology and Metabolism, Hangzhou First People’s Hospital, Nanjing Medical University, Hangzhou, China

3. Han Hui: Department of Endocrinology and Metabolism, Hangzhou First People’s Hospital, Nanjing Medical University, Hangzhou, China

4. Ma Lizhen: Department of Endocrinology and Metabolism, Hangzhou First People’s Hospital, Nanjing Medical University, Hangzhou, China

5. Zhan Yuhong: Department of Endocrinology and Metabolism, Hangzhou First People’s Hospital, Nanjing Medical University, Hangzhou, China

6. Zhang Chu: Department of Endocrinology and Metabolism, Hangzhou First People’s Hospital, Nanjing Medical University, Hangzhou, China

Abstract:

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 (IVS2-2A_G), which had never previously been reported in patients with porphyria or in healthy Chinese population, was identified in the heterozygous state in the patient and her mother.

Page(s): 898-900

DOI: DOI not available

Published: Journal: Journal of Pakistan Medical Association, Volume: 65, Issue: 8, Year: 2015

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