Results 31 to 40 of about 3,950 (159)

Acute hepatic porphyrias

Porto Biomedical Journal
Abstract Introduction: Porphyrias are rare genetic disorders caused by heme biosynthesis pathway enzyme mutations, leading to porphyrin precursors build up in various tissues and diverse symptoms. This review centers on acute hepatic porphyrias (AHP).
Inês Marques, Pedro Marcos
openaire   +4 more sources

Acute Intermittent Porphyria Triggered by COVID-19 Mimicking Guillain-Barré Syndrome: A Diagnostic Challenge. [PDF]

Clin Case Rep
ABSTRACT Acute intermittent porphyria (AIP) is a rare heme biosynthesis disorder in which the accumulation of neurotoxic porphyrin precursors precipitates neurovisceral attacks. Intercurrent infections, including coronavirus disease 2019 (COVID‐19), may trigger or exacerbate AIP and complicate diagnosis, as clinical manifestations can resemble those of
Sadeghi P, Ghahvechi Akbari M, Hassani SA, Alimadadi H, Heidari M, Ziaee V.   +5 more
europepmc   +2 more sources

Acute Intermittent Porphyria: Flaccid Quadriplegia and Encephalopathy due to Posterior Reversible Encephalopathy Syndrome (PRES) [PDF]

Liaquat National Journal of Primary Care
A deficiency of the enzyme HMB Hydroxymethylbilane synthase function, also known as porphobilinogen deaminase, leads to the emergence of acute intermittent porphyria (AIP). AIP is an uncommon form of hepatic porphyria inherited in an autosomal dominant
Saba Zaidi, Ayesha Abdul Samad, Ayesha Jaka   +2 more
doaj   +1 more source

High Prevalence of Insulin Resistance in Asymptomatic Patients with Acute Intermittent Porphyria and Liver-Targeted Insulin as a Novel Therapeutic Approach

Biomedicines, 2021
Acute porphyria attacks are associated with the strong up-regulation of hepatic heme synthesis and over-production of neurotoxic heme precursors. First-line therapy is based on carbohydrate loading.
Isabel Solares, Laura Izquierdo-Sánchez, Montserrat Morales-Conejo, Daniel Jericó, Francisco Javier Castelbón, Karol Marcela Córdoba, Ana Sampedro, Carlos Lumbreras, María Jesús Moreno-Aliaga, Rafael Enríquez de Salamanca, Pedro Berraondo, Antonio Fontanellas   +11 more
doaj   +1 more source

Acute hepatic porphyrias for the neurologist: current concepts and perspectives [PDF]

Arquivos de Neuro-Psiquiatria, 2021
Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated
Paulo Victor Sgobbi de Souza, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Eduardo Augusto Gonçalves, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira   +5 more
doaj   +1 more source

Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report

Anais da Academia Brasileira de Ciências, 2013
Acute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen.
ANNA R.R. DOS SANTOS, RAFAELA R. DE ALBUQUERQUE, MARIA J.R. DORIQUI, GRACIOMAR C. COSTA, ANA PAULA S.A. DOS SANTOS   +4 more
doaj   +1 more source

A 25-Hour Fast Among Quiescent Hereditary Coproporphyria and Variegate Porphyria Patients is Associated With a Low Risk of Complications

Rambam Maimonides Medical Journal, 2023
Objective: In patients with acute hepatic porphyria (AHP), prolonged fasting is a known trigger of AHP attacks. Despite this, some Jewish AHP patients—mainly hereditary coproporphyria (HCP) and variegate porphyria (VP) patients—fast for 25 consecutive ...
Yonatan Edel, Rivka Mamet, Iftach Sagy, Igor Snast, Ran Kaftory, Tomer Mimouni, Assi Levi   +6 more
doaj   +1 more source

Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias [PDF]

Diagnostics, 2021
Porphyrias are a group of congenital and acquired diseases caused by an enzymatic impairment in the biosynthesis of heme. Depending on the specific enzyme involved, different types of porphyrias (i.e., chronic vs. acute, cutaneous vs. neurovisceral, hepatic vs. erythropoietic) are described, with different clinical presentations.
Andrea Ricci, Elena Di Pierro, Matteo Marcacci, Paolo Ventura   +3 more
openaire   +3 more sources

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

Molecular Genetics & Genomic Medicine, 2021
Background Acute Hepatic Porphyrias (AHPs) are characterized by an acute neuroabdominal syndrome including both neuropsychiatric symptoms and neurodegenerative changes.
María del Carmen Martinez, Gabriela Nora Cerbino, Bárbara Xoana Granata, Alcira Batlle, Victoria Estela Parera, María Victoria Rossetti   +5 more
doaj   +1 more source

Acute intermittent porphyria in a 23-year-old man: case report

Revista Médica de Minas Gerais, 2023
Introduction: Porphyrias are metabolic disorders caused by enzymatic alterations in the biosynthesis of the heme group of heme proteins. The clinical spectrum of porphyrias is associated with the location of the damage in the heme formation chain ...
Tarcísio Silva Borborema, Leticia Utsch Araujo, Manoel Bruno Pereira Lima, Lucas Muller Fonseca, Juliana Mattos Tavares   +4 more
doaj   +1 more source