{"title":"Acute intermittent porphyria (AIP) in 27 year old female patient- Case report","authors":"R. Hawaldar, Shana N S Khan","doi":"10.18231/j.jdpo.2023.058","DOIUrl":null,"url":null,"abstract":"Acute Intermittent Porphyria (AIP) is the most common acute and probably the most common inherited porphyria. AIP is caused due to deficiency of hydroxymethylbilane synthase (HMBS). AIP is characterized by a classical triad of abdominal pain, central nervous system abnormalities and peripheral neuropathy. We report a case of 27 year old female patient with recurrent episodes of acute abdominal pain. Patient underwent all laboratory & imaging investigations at our centre.","PeriodicalId":364340,"journal":{"name":"IP Journal of Diagnostic Pathology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"IP Journal of Diagnostic Pathology and Oncology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.18231/j.jdpo.2023.058","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Acute Intermittent Porphyria (AIP) is the most common acute and probably the most common inherited porphyria. AIP is caused due to deficiency of hydroxymethylbilane synthase (HMBS). AIP is characterized by a classical triad of abdominal pain, central nervous system abnormalities and peripheral neuropathy. We report a case of 27 year old female patient with recurrent episodes of acute abdominal pain. Patient underwent all laboratory & imaging investigations at our centre.
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