CLINICAL, BIOCHEMICAL AND GENETIC CHARACTERIZATION OF ACUTE HEPATIC PORPHYRIAS IN A COHORT OF ARGENTINE PATIENTS

GRANATA, B X; ROSSETTI, M V.; CERBINO G N ; PARERA V E; MARTINEZ, M DEL C; BATLLE A

Molecular Genetics & Genomic Medicine

wiley online library

Año: 2019

2324-9269

ABSTRACTBackground: The Acute Hepatic Porphyrias (AHPs) are characterized by an acuteneuroabdominal syndrome including both neuropsychiatric symptoms and neurodegenerativec hanges.Two main hypotheses explain the pathogenesis of nervous system dysfunction: the ROS generation by autooxidation of 5-aminolevulinic acid accumulated in liver and in brain; and liver heme deficiency and in neural tissues generating an oxidative status, a component of the neurodegenerative process.29 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 identify a marker of neurological dysfunction.Results: We studied 116 AIP families and 30 VP families, 609 and 132 individuals respectively. Genotype/phenotype relation was studied. Oxidative stress parameters and plasma homocysteine levels were measured in 20 healthy volunteers, 22 AIP and 12 VP individuals.Conclusion: No significant difference in oxidative stress parameters and homocysteine levels between the groups analyzed was found.