Ontology highlight
ABSTRACT:
SUBMITTER: Alfadhel M
PROVIDER: S-EPMC4235503 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
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]