Results 41 to 50 of about 4,216 (156)

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

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

Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review

Molecular Genetics and Metabolism Reports
Acute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treatment
Isabelle Redonnet-Vernhet, Patrick Mercié, Louis Lebreton, Jean-Marc Blouin, Didier Bronnimann, Samir Mesli, Claire Guibet, Emmanuel Ribeiro, Noémie Gensous, Pierre Duffau, Laurent Gouya, Emmanuel Richard   +11 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification

Molecular Therapy: Nucleic Acids, 2015
The acute hepatic porphyrias are caused by inherited enzymatic deficiencies in the heme biosynthesis pathway. Induction of the first enzyme 5-aminolevulinic acid synthase 1 (ALAS1) by triggers such as fasting or drug exposure can lead to accumulation of ...
Amy Chan, Abigail Liebow, Makiko Yasuda, Lin Gan, Tim Racie, Martin Maier, Satya Kuchimanchi, Don Foster, Stuart Milstein, Klaus Charisse, Alfica Sehgal, Muthiah Manoharan, Rachel Meyers, Kevin Fitzgerald, Amy Simon, Robert J Desnick, William Querbes   +16 more
doaj   +1 more source

Renal failure affects the enzymatic activities of the three first steps in hepatic heme biosynthesis in the acute intermittent porphyria mouse. [PDF]

PLoS ONE, 2012
Chronic kidney disease is a long-term complication in acute intermittent porphyria (AIP). The pathophysiological significance of hepatic overproduction of the porphyrin precursors aminolevulinate acid (ALA) and porphobilinogen (PBG) in chronic kidney ...
Carmen Unzu, Ana Sampedro, Eliane Sardh, Itsaso Mauleón, Rafael Enríquez de Salamanca, Jesús Prieto, Eduardo Salido, Pauline Harper, Antonio Fontanellas   +8 more
doaj   +1 more source

Acute intermittent porphyria: a test of clinical acumen

Journal of Community Hospital Internal Medicine Perspectives, 2017
Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors.
Rashmi Dhital, Sijan Basnet, Dilli Ram Poudel, Khema Raj Bhusal   +3 more
doaj   +1 more source

Feasibility of cellular bioenergetics as a biomarker in porphyria patients

Molecular Genetics and Metabolism Reports, 2019
Porphyria is a group of metabolic disorders due to altered enzyme activities within the heme biosynthetic pathway. It is a systemic disease with multiple potential contributions to mitochondrial dysfunction and oxidative stress.
Balu Chacko, Matilda Lillian Culp, Joseph Bloomer, John Phillips, Yong-Fang Kuo, Victor Darley-Usmar, Ashwani K. Singal   +6 more
doaj   +1 more source

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies

British Journal of Haematology, EarlyView.
Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi, Nandakumar Natarajan, Kathryn E. Dickerson, Richard A. Voit   +3 more
wiley   +1 more source