Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
Sign Up to like & getrecommendations! Published in 2018 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2018.10.008
Abstract: The acute hepatic porphyrias (AHPs) are inborn errors of heme biosynthesis, which include three autosomal dominant porphyrias, Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), and Variegate Porphyria (VP), and the ultra-rare autosomal recessive porphyria, δ-Aminolevulinic… read more here.
Keywords: hydroxymethylbilane synthase; oxidase; acute hepatic; hepatic porphyrias ... See more keywords
Acute hepatic porphyrias - a guide for Hepatologists.
Sign Up to like & getrecommendations! Published in 2024 at "Hepatology"
DOI: 10.1097/hep.0000000000000880
Abstract: The acute hepatic porphyrias (AHPs) are a group of rare, inherited disorders of the heme biosynthesis pathway, usually manifesting with attacks of acute abdominal pain and other neurovisceral symptoms, with or without cutaneous manifestations. AHP… read more here.
Keywords: hepatology; acute hepatic; porphyrias guide; guide hepatologists ... See more keywords
Case‐based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management
Sign Up to like & getrecommendations! Published in 2024 at "Liver International"
DOI: 10.1111/liv.15924
Abstract: The acute hepatic porphyrias (AHPs) include three autosomal dominant disorders, acute intermittent porphyria, variegate porphyria and hereditary coproporphyria, and the ultra‐rare autosomal recessive 5‐aminolevulinic acid dehydratase‐deficient porphyria. All four are characterized by episodic acute neurovisceral… read more here.
Keywords: case based; diagnosis; acute hepatic; hepatic porphyrias ... See more keywords
Update on the diagnosis and management of the autosomal dominant acute hepatic porphyrias
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Pathology"
DOI: 10.1136/jclinpath-2021-207647
Abstract: The autosomal dominant acute hepatic porphyrias (AHPs), acute intermittent porphyria, hereditary coproporphyria (HCP) and variegate porphyria (VP), are low penetrance adult onset disorders caused by partial deficiency of enzymes of haem biosynthesis. All are associated… read more here.
Keywords: acute hepatic; diagnosis; hepatic porphyrias; autosomal dominant ... See more keywords
Acute hepatic porphyrias for the neurologist: current concepts and perspectives.
Sign Up to like & getrecommendations! Published in 2021 at "Arquivos de neuro-psiquiatria"
DOI: 10.1590/0004-282x20200096
Abstract: 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 with… read more here.
Keywords: acute hepatic; neurologist current; hepatic porphyrias; current concepts ... See more keywords
The acute hepatic porphyrias.
Sign Up to like & getrecommendations! Published in 2021 at "Translational gastroenterology and hepatology"
DOI: 10.21037/tgh-2020-01
Abstract: The acute hepatic porphyrias (AHP) are a group of four inherited diseases of heme biosynthesis. They present with similar severe, episodic, acute neurovisceral symptoms due to abnormally elevated levels of porphyrin precursors delta-aminolevulinic acid (ALA).… read more here.
Keywords: acute hepatic; gastroenterology; hepatology; hepatic porphyrias ... See more keywords
Neurofilament light chain as a biomarker for acute hepatic porphyrias
Sign Up to like & getrecommendations! Published in 2024 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2024.1384678
Abstract: Background Acute hepatic porphyrias (AHP) represent a rare group of inherited metabolic disorders of heme biosynthesis pathway. This study aims to determine the diagnostic and prognostic value of serum neurofilament light chain (NfL) as potential… read more here.
Keywords: light chain; neurofilament light; acute hepatic; hepatic porphyrias ... See more keywords