Results 31 to 40 of about 1,644 (213)

The acute hepatic porphyrias [PDF]

, 1981
The acute hepatic porphyrias are the result of hereditary partial deficiencies of individual enzymes in the pathway of haem biosynthesis. Seven enzymes are known to be involved in the pathway, converting glycine and succinyl CoA first to porphyrin ...
McColl, Kenneth E.L.
core   +1 more source

Spotlight on Givosiran as a Treatment Option for Adults with Acute Hepatic Porphyria: Design, Development, and Place in Therapy

Drug Design, Development and Therapy, 2022
Chaudry Nasir Majeed,1 Christopher D Ma,2 Ted Xiao,3 Sean Rudnick,1 Herbert L Bonkovsky1 1Department of Internal Medicine, Section on Gastroenterology and Hepatology, Wake Forest School of Medicine, Winston-Salem, NC, USA; 2Wake Forest University School ...
Majeed CN, Ma CD, Xiao T, Rudnick S, Bonkovsky HL   +4 more
doaj  

Prophylactic heme arginate therapy in acute intermittent hepatic porphyria: A case report [PDF]

Vojnosanitetski Pregled, 2022
Introduction. Among the acute hepatic porphyrias, a small percentage of patients, predominantly female, present with recurrent cyclic attacks of acute intermittent porphyria that occur more than three times a year and sometimes at intervals of less than ...
Krnetić Žarko, Pešić Tatjana, Savić Željka, Jocić Tatiana, Latinović-Bošnjak Olgica, Vračarić Vladimir, Damjanov Dimitrije   +6 more
doaj   +1 more source

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Case Reports in Genetics, 2020
Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates.
G. N. Cerbino, L. Abou Assali, L. S. Varela, L. Tomassi, A. Batlle, V. E. Parera, M. V. Rossetti   +6 more
doaj   +1 more source

New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model. [PDF]

J Intern Med
Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Di Pierro E, Solares I, Jericó D, Castelbón FJ, Solera JT, Riera-Mestre A, Barreda-Sánchez M, Poci C, Nicolli A, Urigo F, Sampedro A, de Salamanca RE, Marcacci M, Ávila MA, Harper P, Fanlo-Maresma MG, Guillén-Navarro E, Graziadei G, Wenzel A, Beck BB, Ventura P, Morales-Conejo M, Fontanellas A.   +22 more
europepmc   +2 more sources

High penetrance, recurrent attacks and thrombus formation in a family with hereditary coproporphyria

JIMD Reports, 2022
Hereditary coproporphyria (HCP) is the rarest of the autosomal dominant acute porphyrias with an estimated incidence of 0.02 per 10 million per year.
Cindy Towns, Sobana Balakrishnan, Chris Florkowski, Andrew Davies, Elaine Barrington‐Ward   +4 more
doaj   +1 more source

Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives

Orphanet Journal of Rare Diseases, 2022
Acute hepatic porphyrias (AHPs) are a family of four rare genetic diseases resulting from a deficiency in one of the enzymes involved in heme biosynthesis.
Matteo Marcacci, Andrea Ricci, Chiara Cuoghi, Stefano Marchini, Antonello Pietrangelo, Paolo Ventura   +5 more
doaj   +1 more source

Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy

Frontiers in Genetics, 2022
Background and aims: Porphyrias constitute a group of rare genetic diseases due to various, mostly autosomal dominant mutations, causing enzymatic deficiency in heme biosynthesis.
Edwige Collaud, Luis Wittwer, Luis Wittwer, Anna-Elisabeth Minder, Jean-Marie Annoni, Elisabeth I. Minder, Joelle N. Chabwine, Joelle N. Chabwine   +7 more
doaj   +1 more source

Brazilian registry of patients with porphyria: REBRAPPO study

Orphanet Journal of Rare Diseases, 2023
Background Porphyrias are a rare group of disease due to inherited defects of heme synthesis with important systemic manifestations and great burden of disease for patients and families due to the exceptional course of disease with disabling chronic ...
Paulo Victor Sgobbi Souza, Gliciane Afonso, Wladimir Bocca Vieira de Rezende Pinto, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Ana Carolina dos Santos Jorge, Roberta Ismael Lacerda Machado, Icaro França Navarro Pinto, Glenda Barbosa Barros, Helvia Bertoldo de Oliveira, Samia Rogatis Calil, Cibele Franz, Acary Souza Bulle Oliveira   +13 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