Results 21 to 30 of about 3,950 (159)

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

Porphyria: a case report

Journal of Medical Case Reports, 2022
Background Prompt diagnosis of metabolic disorders in a resource-limited country like Nepal is daunting. Acute intermittent porphyria is a rare but common hepatic porphyria mostly seen in females of the reproductive age group.
Sujata Baidya, Pratibha Kandel, Smrity Rajkarnikar, Anuradha Kadel, Apeksha Niraula, Raju Kumar Dubey, Machhindra Lamichhane, Mithileshwer Raut, Aseem Bhattarai, Eans Tara Tuladhar, Vijay Kumar Sharma   +10 more
doaj   +1 more source

The diagnosis and management of porphyria cutanea tarda (PCT)

South African Family Practice, 2009
The porphyrias are a group of disorders in which excessive quantities of porphyrins or their precursors are produced. They are due to abnormalities in the control of the porphyrin-haem metabolic pathway.
Mojakgomo H. Motswaledi
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

Endothelial Dysfunction in Acute Hepatic Porphyrias

Diagnostics, 2022
Background Acute hepatic porphyrias (AHPs) are a group of rare diseases caused by dysfunctions in the pathway of heme biosynthesis. Although acute neurovisceral attacks are the most dramatic manifestations, patients are at risk of developing long-term complications, several of which are of a vascular nature.
Andrea Ricci, Gilda Sandri, Matteo Marcacci, Elena Di Pierro, Francesca Granata, Chiara Cuoghi, Stefano Marchini, Antonello Pietrangelo, Paolo Ventura   +8 more
openaire   +3 more sources

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

Mortality in Pedigrees with Acute Intermittent Porphyria

Life, 2022
High mortality rates have been reported in historical cohorts of acute intermittent porphyria (AIP) patients. The mortality associated with (hydroxymethylbilane synthase) HMBS variant heterozygosity is unknown. This study estimates all-cause mortality in
Rochus Neeleman, Kyra Musters, Margreet Wagenmakers, Sophie Mijnhout, Edith Friesema, Eric Sijbrands, Janneke Langendonk   +6 more
doaj   +1 more source

Kidney Involvement in Acute Hepatic Porphyrias: Pathophysiology and Diagnostic Implications

Diagnostics, 2021
Porphyrias are a group of rare disorders originating from an enzyme dysfunction in the pathway of heme biosynthesis. Depending on the specific enzyme involved, porphyrias manifest under drastically different clinical pictures.
Andrea Ricci, Claudio Carmine Guida, Paola Manzini, Chiara Cuoghi, Paolo Ventura   +4 more
doaj   +1 more source

Acute hepatic porphyria and hepatocellular carcinoma [PDF]

British Journal of Cancer, 1988
In this study we examined the case histories of 163 living and 82 deceased adult Finnish patients with acute hepatic porphyria. There were 184 patients with acute intermittent porphyria and 61 patients with variegate porphyria. Among the 124 of the 163 living patients, who were traced 1984-1985, no hepatocellular carcinoma was found.
R, Kauppinen, P, Mustajoki
openaire   +2 more sources

Case Report: Lack of Response to Givosiran in a Case of ALAD Porphyria

Frontiers in Genetics, 2022
Introduction: 5-Aminolevulinic acid dehydratase (ALAD) porphyria (ADP) is an autosomal recessive disease characterized by a profound deficiency in ALAD, the second enzyme in the heme biosynthetic pathway, and acute neurovisceral attacks with abdominal ...
Erica Graff, Karl E. Anderson, Cynthia Levy, Cynthia Levy   +3 more
doaj   +1 more source