19-YEAR-OLD FEMALE WITH ABDOMINAL PAIN

• Main Authors: Ioan Buraga, Adrian-Florin Dobrescu
• Format: Article
• Language: English
• Published: Amaltea Medical Publishing House 2013-03-01
• Series: Romanian Journal of Neurology
• Subjects: abdominal pain; neurological deficit; porfobilinogen
• Online Access: https://revistemedicale.amaltea.ro/Romanian_Journal_of_NEUROLOGY/Revista_Romana_de_NEUROLOGIE-2013-Nr.1/RJN_2013_1_Art-04.pdf

Porphyria is a group of at least 8 diseases that differ greatly between them. Common feature of these diseases is the accumulation in the body of porphyrins or porphyrin precursors, due to defects of specific enzymes in the biosynthesis of heme. Many symptoms of porphyria are nonspecific and therefore the diagnosis is often delayed. Laboratory tests can confirm or exclude the diagnosis of porphyria. However, certain diagnosis requires demonstration of specific enzyme deficiency. The presented case demonstrates the difficulty in diagnosis of acute intermittent porphyria (AIP) in a young woman without a history of significant pathology.