Results 1 to 10 of about 2,269 (118)

Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias

Metabolites, 2014
Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias.
Herbert L Bonkovsky, Bonkovsky Herbert L
exaly   +3 more sources

Iron in Porphyrias: Friend or Foe?

Diagnostics, 2022
Iron is a trace element that is important for many vital processes, including oxygen transport, oxidative metabolism, cellular proliferation, and catalytic reactions. Iron supports these functions mainly as part of the heme molecule. Heme synthesis is an
Elena Buzzetti, Paolo Ventura, Elena Corradini   +2 more
exaly   +3 more sources

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

Acute intermittent porphyria: A case report [PDF]

Vojnosanitetski Pregled, 2021
Introduction. Acute intermittent porphyria is a rare inherited metabolic disorder caused by a decreased level of porphobilinogen deaminase. Subsequent accumulation of by-products in neural elements causes a classic triad of abdominal pain, neurological ...
Vulović Tatjana, Ristanović Aleksandra, Vuković Rade, Veljović Milić   +3 more
doaj   +1 more source

Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral

Acta Médica Portuguesa, 2023
Acute porphyrias are a group of rare genetic metabolic disorders, caused by a defect in one of the enzymes involved in the heme biosynthesis, which results in an abnormally high accumulation of toxic intermediates.
Luís Brito Avô, Luísa Pereira, Anabela Oliveira, Filipa Ferreira, Paulo Filipe, Inês Coelho Rodrigues, Eduarda Couto, Fátima Ferreira, André Airosa Pardal, Pedro Morgado, Sónia Moreira   +10 more
doaj   +1 more source

Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay

Metabolites, 2021
Erythropoietic porphyrias are caused by enzymatic dysfunctions in the heme biosynthetic pathway, resulting in porphyrins accumulation in red blood cells.
Antoine Poli, Caroline Schmitt, Boualem Moulouel, Arienne Mirmiran, Hervé Puy, Thibaud Lefèbvre, Laurent Gouya   +6 more
doaj   +1 more source

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

Severe neurologic manifestations in acute intermittent porphyria developed after spine surgery under general anesthesia: a case report [PDF]

Korean Journal of Anesthesiology, 2014
Porphyrias are inherited metabolic disorders resulting from a specific enzyme defect in the heme biosynthetic pathway. Porphyrias are induced by various precipitants.
Eun Young Park, Yi Seul Kim, Kyung-Jee Lim, Hye Kyoung Lee, Soo Kyung Lee, Hyun Choi, Mae-Hwa Kang   +6 more
doaj   +1 more source

Therapy Follows Diagnosis: Old and New Approaches for the Treatment of Acute Porphyrias, What We Know and What We Should Know

Diagnostics, 2022
Heme, iron protoporphyrin IX, is one of life’s most central molecules. Hence, availability of the enzymatic machinery necessary for its synthesis is crucial for every cell.
Petro E. Petrides
doaj   +1 more source

Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria

Biomolecules, 2023
Acute intermittent porphyria (AIP) is characterized by acute neurovisceral attacks that are precipitated by the induction of hepatic 5-aminolevulinic acid synthase 1 (ALAS1).
Makiko Yasuda, Sangmi Lee, Lin Gan, Hector A. Bergonia, Robert J. Desnick, John D. Phillips   +5 more
doaj   +1 more source