{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T11:19:31Z","timestamp":1782991171963,"version":"3.54.5"},"reference-count":38,"publisher":"Hamad bin Khalifa University Press (HBKU Press)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022]]},"abstract":"<jats:p>Porphyrias are rare metabolic disorders caused by inherited or acquired enzymatic defects in the heme biosynthetic pathway. They are grouped into acute hepatic porphyrias and photocutaneous porphyrias. Acute intermittent porphyria, the most prevalent subtype of acute hepatic porphyrias, is caused by a mutation in the hydroxymethylbilane synthase gene. In this work, a case of a 13 year-old Indian female presenting with multi-organ involvement (Neurological: episodic seizures, behavioral abnormalities, acute onset progressive flaccid-motor quadriparesis, multiple cranial nerve palsies, respiratory paralysis, dysautonomia, and posterior reversible encephalopathy syndrome; Gastrointestinal: recurrent attacks of abdominal pain, nausea\/vomiting, isolated transaminitis, and acute pancreatitis; and Renal: metabolic alkalosis and refractory dyselectrolytemia) which resulted in significant diagnostic dilemmas. She was eventually diagnosed as a case of acute intermittent porphyria harboring a novel hydroxymethylbilane synthase gene mutation (p.Arg173Trp).<\/jats:p>","DOI":"10.5339\/qmj.2022.46","type":"journal-article","created":{"date-parts":[[2022,10,13]],"date-time":"2022-10-13T03:30:27Z","timestamp":1665631827000},"source":"Crossref","is-referenced-by-count":5,"title":["A novel heterozygous mutation in the hydroxymethylbilane synthase gene in a case with acute intermittent porphyria"],"prefix":"10.5339","volume":"2022","author":[{"given":"Ritwik","family":"Ghosh","sequence":"first","affiliation":[{"name":"Department of General Medicine, Burdwan Medical College & Hospital, Burdwan, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mois\u00e9s","family":"Le\u00f3n-Ruiz","sequence":"additional","affiliation":[{"name":"Section of Clinical Neurophysiology, Department of Neurology, University Hospital \u201cLa Paz,\u201d Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sona","family":"Singh Sardar","sequence":"additional","affiliation":[{"name":"Department of General Medicine, Burdwan Medical College & Hospital, Burdwan, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dinobandhu","family":"Naga","sequence":"additional","affiliation":[{"name":"Department of General Medicine, Burdwan Medical College & Hospital, Burdwan, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dipayan","family":"Roy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tapas","family":"Ghosh","sequence":"additional","affiliation":[{"name":"Department of Anatomy, Burdwan Medical College & Hospital, Burdwan, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Souvik","family":"Dubey","sequence":"additional","affiliation":[{"name":"Department of Neuromedicine, Bangur Institute of Neurosciences (BIN), Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juli\u00e1n","family":"Benito-Le\u00f3n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3277","reference":[{"issue":"9","key":"CIT0001","series-title":"N Engl J Med","first-page":"862","article-title":"Porphyria","volume":"377","author":"Bissell\n\u00a0\nDM","year":"2017 Aug 31"},{"issue":"12","key":"CIT0002","series-title":"Int J Neurosci","first-page":"1226","article-title":"Neurological and neuropsychiatric manifestations of porphyria","volume":"129","author":"Suh\n\u00a0\nY","year":"2019 Dec"},{"issue":"5","key":"CIT0003","series-title":"J Inherit Metab Dis","first-page":"849","article-title":"The incidence of inherited porphyrias in Europe","volume":"36","author":"Elder\n\u00a0\nG","year":"2013 Sep"},{"issue":"3","key":"CIT0004","series-title":"Ann Indian Acad Neurol","first-page":"263","article-title":"Clinical Biochemical Characteristic and Hospital Outcome of Acute Intermittent Porphyria Patients: A Descriptive Study from North India","volume":"20","author":"Kumar\n\u00a0\nS","year":"2017 Jul-Sep"},{"issue":"53","key":"CIT0005","series-title":"J Assoc Physicians India","first-page":"101","article-title":"Acute intermittent porphyria in a Kumhar community of Western Rajasthan","author":"Sachdev\n\u00a0\nR","year":"2005"},{"issue":"14","key":"CIT0006","series-title":"Orphanet J Rare Dis","first-page":"59","article-title":"High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor","author":"Barreda-S\u00e1nchez\n\u00a0\nM","year":"2019"},{"issue":"11","key":"CIT0007","series-title":"Hum Mutat","first-page":"1215","article-title":"Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease","volume":"37","author":"Chen\n\u00a0\nB","year":"2016 Nov"},{"key":"CIT0008","series-title":"bioRxiv","article-title":"The Sentieon Genomics Tools - A fast and accurate solution to variant calling from next-generation sequence data","author":"Freed\n\u00a0\nD"},{"issue":"D1","key":"CIT0009","first-page":"D754","volume":"46","author":"Zerbino\n\u00a0\nDR","year":"2018"},{"issue":"4","key":"CIT0010","series-title":"Biosci Rep","first-page":"e00056","article-title":"Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants K132N and V215E with differen phenotypic association with acute intermittent porphyria","volume":"33","author":"Bustad\n\u00a0\nHJ","year":"2013 Aug 8"},{"key":"CIT0011","unstructured":"National Cente for Biotechnology Information [Internet] Available in: https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/649348\/?new_evidence=true.\n."},{"issue":"33","key":"CIT0012","series-title":"Gastroenterol Hepatol","first-page":"436","article-title":"La porfiria aguda intermitente un problem diagn\u00f3stico [Acute intermittent porphyria: a diagnostic dilemma]","author":"G\u00e1zquez\n\u00a0\nSister\u00e9 I","year":"2010"},{"issue":"17","key":"CIT0013","series-title":"Acta Neurol Taiwan","first-page":"177","article-title":"Acute intermittent porphyria presenting as acute pancreatitis and posterior reversible encephalopathy syndrome","author":"Shen\n\u00a0\nFC","year":"2008"},{"issue":"51","key":"CIT0014","series-title":"Pediatr Neurol","first-page":"457","article-title":"Posterior reversible encephalopathy syndrome in acute intermittent porphyria","author":"Zhao\n\u00a0\nB","year":"2014"},{"issue":"2019","key":"CIT0015","series-title":"Case Rep Med","first-page":"4204907","article-title":"Gitelman syndrome: A rare cause of seizure disorder and a systematic review","author":"Shahzad\n\u00a0\nMA","year":"2019"},{"issue":"34","key":"CIT0016","series-title":"Curr Med Res Opin","first-page":"1309","article-title":"Acute intermittent porphyria: general aspects with focus on pain","author":"Cardenas\n\u00a0\nJL","year":"2018"},{"issue":"382","key":"CIT0017","series-title":"N Engl J Med","first-page":"2289","article-title":"Phase 3 Trial of RNAi therapeutic givosiran for acute intermittent porphyria","author":"Balwani\n\u00a0\nM","year":"2020"},{"key":"CIT0018","unstructured":"FDA approve givosiran for acute hepatic porphyria FDA [Internet]. 2022; Available in: https:\/\/www.fda.gov\/drugs\/resources-information-approved-drugs\/fda-approves-givosiran-acute-hepatic-porphyria.\n."},{"issue":"81","key":"CIT0019","series-title":"Drugs","first-page":"841","article-title":"Givosiran: A review in Acute hepatic porphyria","author":"Syed\n\u00a0\nYY","year":"2021"},{"issue":"9","key":"CIT0001","series-title":"N Engl J Med","first-page":"862","article-title":"Porphyria","volume":"377","author":"Bissell\n\u00a0\nDM","year":"2017 Aug 31"},{"issue":"12","key":"CIT0002","series-title":"Int J Neurosci","first-page":"1226","article-title":"Neurological and neuropsychiatric manifestations of porphyria","volume":"129","author":"Suh\n\u00a0\nY","year":"2019 Dec"},{"issue":"5","key":"CIT0003","series-title":"J Inherit Metab Dis","first-page":"849","article-title":"The incidence of inherited porphyrias in Europe","volume":"36","author":"Elder\n\u00a0\nG","year":"2013 Sep"},{"issue":"3","key":"CIT0004","series-title":"Ann Indian Acad Neurol","first-page":"263","article-title":"Clinical Biochemical Characteristic and Hospital Outcome of Acute Intermittent Porphyria Patients: A Descriptive Study from North India","volume":"20","author":"Kumar\n\u00a0\nS","year":"2017 Jul-Sep"},{"issue":"53","key":"CIT0005","series-title":"J Assoc Physicians India","first-page":"101","article-title":"Acute intermittent porphyria in a Kumhar community of Western Rajasthan","author":"Sachdev\n\u00a0\nR","year":"2005"},{"issue":"14","key":"CIT0006","series-title":"Orphanet J Rare Dis","first-page":"59","article-title":"High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor","author":"Barreda-S\u00e1nchez\n\u00a0\nM","year":"2019"},{"issue":"11","key":"CIT0007","series-title":"Hum Mutat","first-page":"1215","article-title":"Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease","volume":"37","author":"Chen\n\u00a0\nB","year":"2016 Nov"},{"key":"CIT0008","series-title":"bioRxiv","article-title":"The Sentieon Genomics Tools - A fast and accurate solution to variant calling from next-generation sequence data","author":"Freed\n\u00a0\nD"},{"issue":"D1","key":"CIT0009","first-page":"D754","volume":"46","author":"Zerbino\n\u00a0\nDR","year":"2018"},{"issue":"4","key":"CIT0010","series-title":"Biosci Rep","first-page":"e00056","article-title":"Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants K132N and V215E with differen phenotypic association with acute intermittent porphyria","volume":"33","author":"Bustad\n\u00a0\nHJ","year":"2013 Aug 8"},{"key":"CIT0011","unstructured":"National Cente for Biotechnology Information [Internet] Available in: https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/649348\/?new_evidence=true.\n."},{"issue":"33","key":"CIT0012","series-title":"Gastroenterol Hepatol","first-page":"436","article-title":"La porfiria aguda intermitente un problem diagn\u00f3stico [Acute intermittent porphyria: a diagnostic dilemma]","author":"G\u00e1zquez\n\u00a0\nSister\u00e9 I","year":"2010"},{"issue":"17","key":"CIT0013","series-title":"Acta Neurol Taiwan","first-page":"177","article-title":"Acute intermittent porphyria presenting as acute pancreatitis and posterior reversible encephalopathy syndrome","author":"Shen\n\u00a0\nFC","year":"2008"},{"issue":"51","key":"CIT0014","series-title":"Pediatr Neurol","first-page":"457","article-title":"Posterior reversible encephalopathy syndrome in acute intermittent porphyria","author":"Zhao\n\u00a0\nB","year":"2014"},{"issue":"2019","key":"CIT0015","series-title":"Case Rep Med","first-page":"4204907","article-title":"Gitelman syndrome: A rare cause of seizure disorder and a systematic review","author":"Shahzad\n\u00a0\nMA","year":"2019"},{"issue":"34","key":"CIT0016","series-title":"Curr Med Res Opin","first-page":"1309","article-title":"Acute intermittent porphyria: general aspects with focus on pain","author":"Cardenas\n\u00a0\nJL","year":"2018"},{"issue":"382","key":"CIT0017","series-title":"N Engl J Med","first-page":"2289","article-title":"Phase 3 Trial of RNAi therapeutic givosiran for acute intermittent porphyria","author":"Balwani\n\u00a0\nM","year":"2020"},{"key":"CIT0018","unstructured":"FDA approve givosiran for acute hepatic porphyria FDA [Internet]. 2022; Available in: https:\/\/www.fda.gov\/drugs\/resources-information-approved-drugs\/fda-approves-givosiran-acute-hepatic-porphyria.\n."},{"issue":"81","key":"CIT0019","series-title":"Drugs","first-page":"841","article-title":"Givosiran: A review in Acute hepatic porphyria","author":"Syed\n\u00a0\nYY","year":"2021"}],"container-title":["Qatar Medical Journal"],"original-title":[],"link":[{"URL":"https:\/\/www.qscience.com\/view\/journals\/qmj\/2022\/4\/article-46.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.qscience.com\/downloadpdf\/journals\/qmj\/2022\/4\/article-46.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/www.qscience.com\/downloadpdf\/journals\/qmj\/2022\/4\/article-46.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T17:10:13Z","timestamp":1777309813000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.qscience.com\/view\/journals\/qmj\/2022\/4\/article-46.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":38,"journal-issue":{"issue":"4"},"URL":"https:\/\/doi.org\/10.5339\/qmj.2022.46","relation":{},"ISSN":["2227-0426"],"issn-type":[{"value":"2227-0426","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022]]}}}