Abstract
Introduction and Aims: Acute intermittent porphyria (AIP) results from the porphobilinogen deaminase (PBGD) haploinsufficiency and affects hepatic heme biosynthesis. Life-threatening acute neurologic attacks occur in response to stressors (fasting) and were mainly attributed to overproduction of heme-derived neurotoxic metabolites. However, emerging data in both preclinical models and humans highlighted that alterations in liver metabolism, potentially involving insulin resistance and mitochondrial dysfunction, may drive AIP pathophysiology. Aim of this study will be to investigate the metabolic aberrancies in response to PBGD downregulation in vitro, with particular focus on mitochondria, in which many of metabolic processes occur.
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