Results 1 to 10 of about 17,878 (259)
Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay
Metabolites, 2021 Erythropoietic porphyrias are caused by enzymatic dysfunctions in the heme biosynthetic pathway, resulting in porphyrins accumulation in red blood cells.
Antoine Poli +6 more
doaj +2 more sources
Acute hepatic porphyrias for the neurologist: current concepts and perspectives [PDF]
Arquivos de Neuro-Psiquiatria, 2021 Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated
Paulo Victor Sgobbi de Souza +5 more
doaj +2 more sources
Iron in Porphyrias: Friend or Foe?
Diagnostics, 2022 Iron is a trace element that is important for many vital processes, including oxygen transport, oxidative metabolism, cellular proliferation, and catalytic reactions. Iron supports these functions mainly as part of the heme molecule. Heme synthesis is an
Elena Buzzetti +2 more
doaj +2 more sources
Psychological Aspect and Quality of Life in Porphyrias: A Review
Diagnostics, 2022 The World Health Organization (WHO) describes “health” as a state of physical, mental, and social well-being and not merely the absence of disease or infirmity.
Granata Francesca +4 more
doaj +2 more sources
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
doaj +2 more sources
Acute porphyrias – A neurological perspective
Brain and Behavior, 2021 Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation, delayed diagnosis and misdiagnosis are common. AHPs
Lea M. Gerischer +5 more
doaj +2 more sources
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
doaj +2 more sources
Practical recommendations for biochemical and genetic diagnosis of the porphyrias. [PDF]
Liver IntThe porphyrias are a group of rare inborn errors of metabolism associated with various clinical presentations and long‐term complications, making them relevant differential diagnoses to consider for many clinical specialities, especially hepatologists ...
Aarsand AK +4 more
europepmc +2 more sources
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
doaj +2 more sources
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
exaly +3 more sources