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


ABSTRACT: BACKGROUND: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.

SUBMITTER: Alfadhel M 

PROVIDER: S-EPMC4235503 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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

Alfadhel Majid M   Saleh Neam N   Alenazi Helal H   Baffoe-Bonnie Henry H  

Neuropsychiatric disease and treatment 20141112


<h4>Background</h4>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.<h4>Case report</h4>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 po  ...[more]

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