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Acute hepatic porphyria - classification, diagnosis and treatment
Journal of Education, Health and Sport, 2022 Porphyrias belong to the group of inherited metabolic diseases. Each of the four types of acute hepatic porphyria is caused by a different mutation in the gene of an enzyme involved in the heme biosynthetic pathway. The literature distinguishes between:
Aleksandra Czekaj +4 more
doaj +1 more source
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 +3 more
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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 +10 more
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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
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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 +6 more
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Porphyrias associated with malignant tumors: Results of treatment with ionizing irradiation [PDF]
, 2001 Background: Porphyrin metabolism disorders, known as porphyria, represent inherited or acquired diseases. The development of porphyria due to light sensibility occurs especially with exposure to wavelengths in the range of 300-700 nm.
Dühmke, Eckhart +4 more
core +1 more source
Urinary porphyrin excretion in hepatitis C infection [PDF]
, 1999 A high prevalence of hepatitis C virus infection in porphyria cutanea tarda in some populations suggests a close link between viral hepatitis and alteration of porphyrin metabolism.
Jacob, Karl +2 more
core +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 +8 more
openaire +4 more sources
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
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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 +6 more
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