ea0041ep350 | Clinical case reports - Thyroid/Others | ECE2016
Nagaiceva Jekaterina
, Kaplja Natalija
, Puzaka Ilze
, Steina Liva
, Fokina Natalija
, Kokare Maija
, Steina Sandra
, Miklasevics Edvins
, Pirags Valdis
Acute intermittent porphyria (AIP) is an uncommon monogenic autosomal dominant disorder with a defect in the haem biosynthesis pathway at the level of the enzyme porphobilinogen deaminase. The disease has low penetrance; most patients could stay asymptomatic throughout life. Clinical manifestation depends on various precipitants, which increase hepatic haem production and cytochrome activity. We report a case of a female patient who had regular moderate-to-severe cyclic AIP at...