Title |
Adrenal hormonal imbalance in acute intermittent porphyria patients: results of a case control study
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, April 2014
|
DOI | 10.1186/1750-1172-9-54 |
Pubmed ID | |
Authors |
Oscar J Pozo, Josep Marcos, Andreu Fabregat, Rosa Ventura, Gregori Casals, Paula Aguilera, Jordi Segura, Jordi To-Figueras |
Abstract |
Acute Intermittent Porphyria (AIP) is a rare disease that results from a deficiency of hydroxymethylbilane synthase, the third enzyme of the heme biosynthetic pathway. AIP carriers are at risk of presenting acute life-threatening neurovisceral attacks. The disease induces overproduction of heme precursors in the liver and long-lasting deregulation of metabolic networks. The clinical history of AIP suggests a strong endocrine influence, being neurovisceral attacks more common in women than in men and very rare before puberty. To asses the hypothesis that steroidogenesis may be modified in AIP patients with biochemically active disease, we undertook a comprehensive analysis of the urinary steroid metabolome. |
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