title: A novel mutation, IVS2-2AgG, associated with acute intermittent porphyria in a Chinese family.
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 (IVS2-2Ag→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.
authors.affiliation: Department of Endocrinology and Metabolism, Hangzhou First People's Hospital, Nanjing Medical University, Hangzhou, China.
authors.forename: Huang
authors.initials: H
authors.lastname: Jiao
authors.affiliation: Department of Endocrinology and Metabolism, Hangzhou First People's Hospital, Nanjing Medical University, Hangzhou, China.
authors.forename: Zhang
authors.initials: Z
authors.lastname: Xianfeng
authors.affiliation: Department of Endocrinology and Metabolism, Hangzhou First People's Hospital, Nanjing Medical University, Hangzhou, China.
authors.forename: Han
authors.initials: H
authors.lastname: Hui
authors.affiliation: Department of Endocrinology and Metabolism, Hangzhou First People's Hospital, Nanjing Medical University, Hangzhou, China.
authors.forename: Zhan
authors.initials: Z
authors.lastname: Yuhong
authors.affiliation: Department of Endocrinology and Metabolism, Hangzhou First People's Hospital, Nanjing Medical University, Hangzhou, China.
authors.forename: Zhang
authors.initials: Z
authors.lastname: Chu
mesh_terms: D044466:Asian People / Q000235:genetics; D002681:China; D005260:Female; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D007438:Introns; D009154:Mutation; D017118:Porphyria, Acute Intermittent / Q000235:genetics*; D049590:Postpartum Period; D055815:Young Adult
chemical_list: D011163:Hydroxymethylbilane Synthase
keywords: Acute intermittent porphyria, Porphobilinogen deaminase, Gene mutation, Menstruation