Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients.

ABSTRACT:

Background

Acute Hepatic Porphyrias (AHPs) are characterized by an acute neuroabdominal syndrome including both neuropsychiatric symptoms and neurodegenerative changes. Two main hypotheses explain the pathogenesis of nervous system dysfunction: (a) the ROS generation by autooxidation of 5-aminolevulinic acid accumulated in liver and brain; (b) liver heme deficiency and in neural tissues that generate an oxidative status, a component of the neurodegenerative process.

Methods

We review results obtained from Acute Intermittent Porphyria (AIP) and Variegate Porphyria (VP) families studied at clinical, biochemical, and molecular level at the CIPYP in Argentina. The relationship between the porphyric attack and oxidative stress was also evaluated in AHP patients and controls, to i

SUBMITTER: Martinez MDC 

PROVIDER: S-EPMC8172188 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature