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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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Evaluation of a commercially available rapid urinary porphobilinogen test [PDF]
, 2011 Background: Demonstration of substantially increased urinary excretion of porphobilinogen is the cornerstone of diagnosing acute porphyria crisis. Because porphobilinogen testing is not implemented on clinical chemistry analysers, respective analyses are
Buttery JE +4 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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International Journal of Clinical Practice, 1993 SUMMARYThe porphyrias are a heterogeneous group of rare inborn errors of metabolism caused by inherited enzyme defects in the haem biosynthetic pathway, resulting in overproduction of porphyrins. The porphyrias can be distinguished biochemically but may be difficult to differentiate clinically.
G Y, Lip, K E, McColl, M R, Moore
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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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Journal of Clinical and Translational Hepatology, 2015 The porphyrias comprise a set of diseases, each representing an individual defect in one of the eight enzymes mediating the pathway of heme synthesis. The diseases are genetically distinct but have in common the overproduction of heme precursors. In the case of the acute (neurologic) porphyrias, the cause of symptoms appears to be overproduction of a ...
Bissell, D Montgomery, Wang, Bruce
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Safe use of perampanel in a carrier of variegate porphyria [PDF]
, 2016 Objectives. Treatment of chronic epilepsy in acute porphyrias may be difficult because many antiepileptic drugs can cause activation of clinically-latent conditions. Methods.
Balestrini, S +3 more
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Life, 2023 Acute porphyrias are a group of monogenetic inborn errors of heme biosynthesis, characterized by acute and potentially life-threatening neurovisceral attacks upon exposure to certain triggering factors.
Adrian Belosevic +10 more
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19-year-old female with abdominal pain [PDF]
Romanian Journal of Neurology, 2013 Porphyria is a group of at least 8 diseases that differ greatly between them. Common feature of these diseases is the accumulation in the body of porphyrins or porphyrin precursors, due to defects of specific enzymes in the biosynthesis of heme.
Ioan Buraga, Adrian-Florin Dobrescu
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Bioanalytical studies of porphyric disorders using HPLC with fluorescence detection [PDF]
, 2014 We describe here the development, validation, quantification and application of a method for determination of heme porphyrin precursors in the urine of porphyric patients.
Alves, Atecla Nunciata Lopes +3 more
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