Results 41 to 50 of about 3,950 (159)

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

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

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

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

Update on Menopause Hormone Therapy; Current Indications and Unanswered Questions

Clinical Endocrinology, EarlyView.
ABSTRACT Objective To provide clinicians involved in managing menopause with a summary of current evidence surrounding menopause hormone therapy (MHT). Design The authors evaluate and synthesize existing pooled evidence relating to MHT's clinical indications, efficacy, and safety and explore the limitations of existing data. Patients The review focuses
Annice Mukherjee, Susan R. Davis
wiley   +1 more source

Iron Overload: Pathophysiology, Diagnosis and Monitoring

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Iron overload is associated with significant health risks, underscoring the importance of understanding its pathophysiology as well as establishing accurate diagnostic and monitoring methods. Chronic iron overload is associated with either genetic disorders characterized by excessive iron accumulation (hereditary hemochromatosis), or is ...
Elena Chatzikalil, Polyxeni Delaporta, Konstantinos Bistas, Antonis Kattamis   +3 more
wiley   +1 more source

mRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacks

Molecular Therapy: Nucleic Acids, 2021
Variegate porphyria (VP) results from haploinsufficiency of protoporphyrinogen oxidase (PPOX), the seventh enzyme in the heme synthesis pathway. There is no VP model that recapitulates the clinical manifestations of acute attacks.
Daniel Jericó, Karol M. Córdoba, Lei Jiang, Caroline Schmitt, María Morán, Ana Sampedro, Manuel Alegre, María Collantes, Eva Santamaría, Estíbaliz Alegre, Corinne Culerier, Ander Estella-Hermoso de Mendoza, Julen Oyarzabal, Miguel A. Martín, Iván Peñuelas, Matías A. Ávila, Laurent Gouya, Paolo G.V. Martini, Antonio Fontanellas   +18 more
doaj   +1 more source

Psychological Aspect and Quality of Life in Porphyrias: A Review

Diagnostics, 2022
The World Health Organization (WHO) describes “health” as a state of physical, mental, and social well-being and not merely the absence of disease or infirmity.
Granata Francesca, Annamaria Nicolli, Alessia Colaiocco, Elena Di Pierro, Giovanna Graziadei   +4 more
doaj   +1 more source