Results 21 to 30 of about 1,411 (134)
Porphyrias in the Age of Targeted Therapies
Diagnostics, 2021 The porphyrias are a group of eight rare genetic disorders, each caused by the deficiency of one of the enzymes in the heme biosynthetic pathway, resulting in the excess accumulation of heme precursors and porphyrins. Depending on the tissue site as well
Angelika L. Erwin, Manisha Balwani
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Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias
Diagnostics, 2021 Porphyrias are a group of congenital and acquired diseases caused by an enzymatic impairment in the biosynthesis of heme. Depending on the specific enzyme involved, different types of porphyrias (i.e., chronic vs. acute, cutaneous vs.
Andrea Ricci +3 more
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Molecular Genetics and Metabolism Reports, 2022 Elagolix is an FDA-approved treatment for moderate-to-severe pain associated with endometriosis but has been associated with increased acute porphyric attacks in women with the acute hepatic porphyrias (AHPs).
Christopher D. Ma, Herbert L. Bonkovsky
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Case for diagnosis. Sclerodermiform manifestations of porphyria cutanea tarda secondary to hepatitis C [PDF]
Anais Brasileiros de Dermatologia, 2019 : A 63-year-old black female patient with blisters and exulcerations on the face, neck, upper limbs, and subsequent evolution with hypochromic sclerotic areas and alopecia, is reported.
Juliana de Oliveira Alves Calado +2 more
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Acute intermittent porphyria in a 23-year-old man: case report
Revista Médica de Minas Gerais, 2023 Introduction: Porphyrias are metabolic disorders caused by enzymatic alterations in the biosynthesis of the heme group of heme proteins. The clinical spectrum of porphyrias is associated with the location of the damage in the heme formation chain ...
Tarcísio Silva Borborema +4 more
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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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Pain in acute hepatic porphyrias: Updates on pathophysiology and management
Frontiers in Neurology, 2022 Acute hepatic porphyrias (AHPs) typically present with recurrent acute attacks of severe abdominal pain and acute autonomic dysfunction. While chronic symptoms were historically overlooked in the literature, recent studies have reported increased ...
Mohamed Kazamel +2 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 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
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Frontiers in Pharmacology, 2022 Eslicarbazepine acetate, a third-generation antiepileptic drug (AED), has shown improved clinical response and safety in comparison to older generation AEDs for patients with partial-onset seizures.
Christopher D. Ma, Herbert L. Bonkovsky
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