CIPYP   05508
CENTRO DE INVESTIGACIONES SOBRE PORFIRINAS Y PORFIRIAS
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
CLINICAL, BIOCHEMICAL AND GENETIC CHARACTERIZATION OF ACUTE HEPATIC PORPHYRIAS IN A COHORT OF ARGENTINE PATIENTS
Autor/es:
MARTINEZ, MARÍA DEL CARMEN; BATLLE ALCIRA; GRANATA, B X; ROSSCETTI MARIA VICTORIA; CERBINO NORA GABRIELA ; PARERA VE
Lugar:
Mar del Plata
Reunión:
Congreso; LXIII Reunión Científica de la Sociedad Argentina de Investigación Clínica; 2018
Institución organizadora:
Sociedad Argentina de Investigación Clínica
Resumen:
toms and neurodegenerative changes.Acute Intermittent Porphyria (AIP) is an autosomal dominant disor- producing a markedly increase in the urinary excretion of 5-aminolevulinicacid and porphobilinogen.Variegate Porphyria (VP) is an autosomal dominant disorder asso-- VP may present a broad spectrum of clinical manifestations char--blisters, millia and pigmentary changes in sun exposed areas. Neurologicalsymptoms are similar to those of AIP.dysfunction: the ROS generation by autooxidation of 5-aminolevulin-and in neural tissues generating an oxidative status, a component ofthe neurodegenerative process.-ical, biochemical and molecular level at the CIPYP. The relationship-ed in AHP patients, to identify a marker of neurological dysfunction.We studied 116 AIP families and 30 VP families (609 and 132 in-measured in 20 healthy volunteers, 22 AIP and 12 VP individuals.-ference in oxidative stress parameters and homocysteine levels syndrome including both neuropsychiatric symp