Results 21 to 30 of about 789 (146)

Generation and characterization of human U-2 OS cell lines with the CRISPR/Cas9-edited protoporphyrinogen oxidase IX gene

Scientific Reports, 2022
In humans, disruptions in the heme biosynthetic pathway are associated with various types of porphyrias, including variegate porphyria that results from the decreased activity of protoporphyrinogen oxidase IX (PPO; E.C.1.3.3.4), the enzyme catalyzing the
Zora Novakova, Mirko Milosevic, Zsofia Kutil, Marketa Ondrakova, Barbora Havlinova, Petr Kasparek, Cristian Sandoval-Acuña, Zuzana Korandova, Jaroslav Truksa, Marek Vrbacky, Jakub Rohlena, Cyril Barinka   +11 more
doaj   +1 more source

Nonconvulsive status epilepticus secondary to acute porphyria crisis

Epilepsy and Behavior Case Reports, 2019
Both variegate and acute intermittent porphyria can manifest with various neurological symptoms. Although acute symptomatic seizures have been previously described, they are typically tonic–clonic and focal impaired awareness seizures.
Sara Dawit, Shubhang K. Bhatt, Devika M. Das, Andrew R. Pines, Harn J. Shiue, Brent P. Goodman, Joseph F. Drazkowski, Joseph I. Sirven   +7 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

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

Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case–control study of 188 patients

Journal of Inherited Metabolic Disease, Volume 46, Issue 6, Page 1186-1194, November 2023., 2023
Abstract Acute intermittent porphyria (AIP) is a rare hereditary metabolic disease characterized by acute attacks and accumulation of the porphyrin precursors 5‐aminolevulinic acid (ALA) and porphobilinogen (PBG). Patients with AIP have a high risk of primary liver cancer (PLC).
Mattias Lissing, Axel Wester, Daphne Vassiliou, Ylva Floderus, Pauline Harper, Eliane Sardh, Staffan Wahlin   +6 more
wiley   +1 more source

Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network

Journal of Inherited Metabolic Disease, Volume 46, Issue 4, Page 662-674, July 2023., 2023
Abstract Acute porphyrias are a group of rare inherited disorders causing acute neurovisceral attacks. Many terms used frequently in the literature and clinical practice are ambiguous, which can lead to confusion in the way patients are managed, studied, and reported in clinical studies.
Penelope E. Stein, Yonatan Edel, Razan Mansour, Reem A. Mustafa, Sverre Sandberg, Members of the Acute Porphyria Expert Panel, Aasne K. Aarsand, Karl E. Anderson, Michael Badminton, Manisha Balwani, Herbert L. Bonkovsky, Maria Domenica Cappellini, David Cassiman, Jean‐Charles Deybach, Ibrahim El Mikati, Liz Gill, Laurent Gouya, Pauline Harper, Richard Hift, Aneta Ivanova, Janneke G. Langendonk, Hetanshi Naik, Matteo Marcacci, Elena Pischik, David Rees, Eliane Sardh, Caroline Schmitt, Mark Sonderup, Ulrich Stölzel, Jordi To‐Figueras, Paolo Ventura, Bruce Wang, Christina Weiler‐Normann, Sharon Whatley, Paul Wilson   +34 more
wiley   +1 more source

Sporadic Porphyria Cutanea Tarda, Cutaneous Sarcoidosis, and Compound Heterozygosity of HFE Mutations Cys282Tyr and His63Asp-A Case Report. [PDF]

EJHaem
ABSTRACT Porphyria cutanea tarda (PCT) is caused by inherited or acquired defects of uroporphyrinogen decarboxylase (UROD) in the heme biosynthetic pathway. Altered iron homeostasis via hemochromatosis gene (HFE) mutations is one of many susceptibility factors associated with the sporadic form of PCT.
Kim JL, Crawford R, Lano IM, Merkeley H.
europepmc   +2 more sources

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.
Siddesh Besur, Wehong Hou, Paul Schmeltzer, Herbert L. Bonkovsky   +3 more
doaj   +1 more source

Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy

Molecular Genetics and Metabolism Reports, 2022
Background: Acute hepatic porphyria includes four inherited disorders caused by partial deficiencies of enzymes related to the heme biosynthesis. Clinical manifestations include acute attacks, occurring mainly among female patients.
Katrin Baumann, Raili Kauppinen
doaj   +1 more source

Heterologous expression and purification of recombinant human protoporphyrinogen oxidase IX: A comparative study.

PLoS ONE, 2021
Human protoporphyrinogen oxidase IX (hPPO) is an oxygen-dependent enzyme catalyzing the penultimate step in the heme biosynthesis pathway. Mutations in the enzyme are linked to variegate porphyria, an autosomal dominant metabolic disease.
Zora Novakova, Daria Khuntsaria, Marketa Gresova, Jana Mikesova, Barbora Havlinova, Shivam Shukla, Lucie Kolarova, Katerina Vesela, Pavel Martasek, Cyril Barinka   +9 more
doaj   +2 more sources