Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis

Majid Alfadhel,1,3 Neam Saleh,2 Helal Alenazi,2 Henry Baffoe-Bonnie21Division of Genetics, Department of Pediatrics, 2Division of General Medicine, Department of Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia; 3College of Medicine, King Saud Bin Abdulaziz University for Heal...

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Autores principales:	Alfadhel M, Saleh N, Alenazi H, Baffoe-Bonnie H
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2014
Materias:	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/b497acb546ad483c82c64699703490db
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spelling	oai:doaj.org-article:b497acb546ad483c82c64699703490db2021-12-02T02:25:03ZAcute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis1178-2021https://doaj.org/article/b497acb546ad483c82c64699703490db2014-11-01T00:00:00Zhttp://www.dovepress.com/acute-intermittent-porphyria-caused-by-novel-mutation-in-hmbs-gene-mis-peer-reviewed-article-NDThttps://doaj.org/toc/1178-2021 Majid Alfadhel,1,3 Neam Saleh,2 Helal Alenazi,2 Henry Baffoe-Bonnie21Division of Genetics, Department of Pediatrics, 2Division of General Medicine, Department of Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia; 3College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi ArabiaBackground: Acute intermittent porphyria (AIP) is an autosomal dominant neurovisceral inherited disorder due to a defect in the heme biosynthesis pathway. Misdiagnosis of the porphyrias is not uncommon.Case report: We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis.Conclusion: Clinicians are alerted to consider the possibility of AIP in an adult presenting with an acute abdomen, features of cholecystitis, and neuropsychiatric manifestations.Keywords: porphyria, cholecystitis, acute abdomen, acute intermittent porphyria, HMBS gene, hydroxymethylbilane synthaseAlfadhel MSaleh NAlenazi HBaffoe-Bonnie HDove Medical PressarticleNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol 2014, Iss default, Pp 2135-2137 (2014)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Alfadhel M Saleh N Alenazi H Baffoe-Bonnie H Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis
description	Majid Alfadhel,1,3 Neam Saleh,2 Helal Alenazi,2 Henry Baffoe-Bonnie21Division of Genetics, Department of Pediatrics, 2Division of General Medicine, Department of Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia; 3College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi ArabiaBackground: Acute intermittent porphyria (AIP) is an autosomal dominant neurovisceral inherited disorder due to a defect in the heme biosynthesis pathway. Misdiagnosis of the porphyrias is not uncommon.Case report: We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis.Conclusion: Clinicians are alerted to consider the possibility of AIP in an adult presenting with an acute abdomen, features of cholecystitis, and neuropsychiatric manifestations.Keywords: porphyria, cholecystitis, acute abdomen, acute intermittent porphyria, HMBS gene, hydroxymethylbilane synthase
format	article
author	Alfadhel M Saleh N Alenazi H Baffoe-Bonnie H
author_facet	Alfadhel M Saleh N Alenazi H Baffoe-Bonnie H
author_sort	Alfadhel M
title	Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis
title_short	Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis
title_full	Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis
title_fullStr	Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis
title_full_unstemmed	Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis
title_sort	acute intermittent porphyria caused by novel mutation in hmbs gene, misdiagnosed as cholecystitis
publisher	Dove Medical Press
publishDate	2014
url	https://doaj.org/article/b497acb546ad483c82c64699703490db
work_keys_str_mv	AT alfadhelm acuteintermittentporphyriacausedbynovelmutationinhmbsgenemisdiagnosedascholecystitis AT salehn acuteintermittentporphyriacausedbynovelmutationinhmbsgenemisdiagnosedascholecystitis AT alenazih acuteintermittentporphyriacausedbynovelmutationinhmbsgenemisdiagnosedascholecystitis AT baffoebonnieh acuteintermittentporphyriacausedbynovelmutationinhmbsgenemisdiagnosedascholecystitis
_version_	1718402490990329856

Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis

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