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 poss

SUBMITTER: Alfadhel M 

PROVIDER: S-EPMC4235503 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature