Results 21 to 30 of about 5,001 (177)
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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Frontiers in Chemistry, 2022 Early and sensitive detection of δ-aminolevulinic acid (δ-ALA) and porphobilinogen (PBG) is the cornerstone of diagnosis and effective treatment for acute porphyria. However, at present, the quantifying strategies demand multiple solvent extraction steps
Muhammad Ajmal +5 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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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 +4 more
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The Synthesis of a Pyrazol Analogon of Porphobilinogen with the Help of the Mukaiyama Aldol Reaction
CHIMIA, 2003 The synthesis of a pyrazol analogon of porphobilinogen is described. The Mukaiyama crossed aldol reaction is the key step of our approach.
André Chaperon +6 more
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Acute Intermittent Porphyria: Flaccid Quadriplegia and Encephalopathy due to Posterior Reversible Encephalopathy Syndrome (PRES) [PDF]
Liaquat National Journal of Primary CareA deficiency of the enzyme HMB Hydroxymethylbilane synthase function, also known as porphobilinogen deaminase, leads to the emergence of acute intermittent porphyria (AIP). AIP is an uncommon form of hepatic porphyria inherited in an autosomal dominant
Saba Zaidi +2 more
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iScience, 2021 Summary: Porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthesis, catalyzes the sequential coupling of four porphobilinogen (PBG) molecules into a heme precursor. Mutations in PBGD are associated with acute intermittent porphyria (AIP)
Helene J. Bustad +6 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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Enigmatic Evolutionary History of Porphobilinogen Deaminase in Eukaryotic Phototrophs
Biology, 2021 In most eukaryotic phototrophs, the entire heme synthesis is localized to the plastid, and enzymes of cyanobacterial origin dominate the pathway.
Miroslav Oborník
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Acute intermittent porphyria: Diagnostic dilemma and treatment options
Journal of Anaesthesiology Clinical Pharmacology, 2015 Acute intermittent porphyria (AIP) presents with diverse group of symptoms making its early diagnosis difficult. Delaying diagnosis and treatment of AIP can be fatal or can cause long term or permanent neurological damage.
Mohan Deep Kaur +3 more
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