Acute Hepatic Porphyria – Minireview [PDF]
Modern Medicine, 2023 Acute Hepatic Porphyria (AHP) is an uncommon and hereditary illness that belongs to a group of disorders known as porphyries. This condition results from a deficiency of the porphobilinogen deaminase enzyme, which plays a role in heme production, a ...
Aida SAVU, Andrei EDU, Lucian NEGREANU
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Acute Hepatic Porphyrias: Review and Recent Progress. [PDF]
Hepatology Communications, 2019 The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
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Efficacy and safety of givosiran in Japanese patients with acute hepatic porphyria: clinical findings from an expanded access study [PDF]
Scientific ReportsAcute hepatic porphyria (AHP), a rare genetic disorder, causes life-threatening porphyria attacks and chronic pain and impairs daily functioning and quality of life. Recently, a new siRNA therapy, givosiran, became available for AHP.
Nobuaki Ozaki +6 more
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Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report [PDF]
Journal of Medical Case ReportsBackground Heterozygous mutations of the hydroxymethylbilane synthase gene can lead to acute intermittent porphyria, with episodic abdominal pain and neuropsychiatric symptoms.
Gabriel Schacht +6 more
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Obstacles to Early Diagnosis of Acute Hepatic Porphyria: Current Perspectives on Improving Early Diagnosis and Clinical Management [PDF]
Clinical and Experimental GastroenterologyManish Thapar,1 Akash Singh,2 Kevin M Robinson,3 Herbert L Bonkovsky4 1Division of Hepatology, Jefferson- Einstein Medical Center, Philadelphia, PA, USA; 2Department of Medicine, Jefferson- Einstein Medical Center Montgomery, East Norriton, PA, USA ...
Thapar M +3 more
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Pathogenesis of acute encephalopathy in acute hepatic porphyria. [PDF]
J Neurol, 2023 AbstractAcute encephalopathy (AE) can be a manifestation of an acute porphyric attack. Clinical data were studied in 32 patients during AE with or without polyneuropathy (PNP) together with 12 subjects with PNP but no AE, and 17 with dysautonomia solely.
Pischik E +3 more
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The acute hepatic porphyrias [PDF]
Translational Gastroenterology and Hepatology, 2021 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).
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Acute Hepatic Porphyria. [PDF]
J Clin Transl Hepatol, 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 DM, Wang B.
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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
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Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria. [PDF]
, 2020 PurposeAcute intermittent porphyria (AIP) is a rare inborn error of heme biosynthesis characterized by life-threatening acute attacks. Few studies have assessed quality of life (QoL) in AIP and those that have had small sample sizes and used tools that ...
Anderson, Karl E +14 more
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