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Korean J Pediatr Gastroenterol Nutr. 2011 Mar;14(1):81-85. Korean. Case Report. https://doi.org/10.5223/kjpgn.2011.14.1.81
Park MR , Seo JK , Ko JS , Chang JY , Yang HR .
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. kojs@snu.ac.kr
Abstract

Acute intermittent porphyria (AIP) is a rare disorder characterized biochemically by the increased excretion of porphyrins and porphyrin precursors, including delta-aminolevulinic acid (ALA) and porphobilinogen (PBG). AIP has variable clinical manifestations, such as acute abdominal pain, vomiting, nausea, constipation, peripheral neuropathy, seizures, tachycardia, and hypertension. A 16-year-old girl presented with recurrent abdominal pain, vomiting, hypertension, seizures, hypercholesterolemia, and red urine. AIP was confirmed by clinical features and increased 24-hour urine ALA and PBG. AIP should be considered in the differential diagnosis of patients who have abdominal pain, hypertension, and seizures when the results of all other tests are normal.

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