Results 1 to 10 of about 8,404 (212)
Nonconvulsive status epilepticus secondary to acute porphyria crisis [PDF]
Epilepsy and Behavior Case Reports, 2019 Both variegate and acute intermittent porphyria can manifest with various neurological symptoms. Although acute symptomatic seizures have been previously described, they are typically tonic–clonic and focal impaired awareness seizures.
Sara Dawit +7 more
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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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Consideration of Acute Porphyria in an Emergency Department Patient: A Case Report and Discussion of Common Pitfalls [PDF]
Clinical Practice and Cases in Emergency Medicine, 2022 Introduction: Porphyria refers to a group of disorders associated with defects in heme synthesis. They can be associated with severely debilitating features, including abdominal pain, psychiatric symptoms, neurological defects, and cardiovascular ...
Anthony Rios +2 more
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Acute intermittent porphyria exacerbation following in vitro fertilization treatment
Taiwanese Journal of Obstetrics & Gynecology, 2016 Objectives: Assisted reproductive technology is commonly used for women with infertility. We report a case of acute intermittent porphyria associated with in vitro fertilization treatment.
Geok Huey New +2 more
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Acute Intermittent Porphyria Triggered by COVID-19 Mimicking Guillain-Barré Syndrome: A Diagnostic Challenge. [PDF]
Clin Case RepABSTRACT Acute intermittent porphyria (AIP) is a rare heme biosynthesis disorder in which the accumulation of neurotoxic porphyrin precursors precipitates neurovisceral attacks. Intercurrent infections, including coronavirus disease 2019 (COVID‐19), may trigger or exacerbate AIP and complicate diagnosis, as clinical manifestations can resemble those of
Sadeghi P +5 more
europepmc +2 more sources
A Rare Clinical Presentation of Variegate Porphyria. [PDF]
Mol Genet Genomic MedWGS redirected the diagnostic focus, underscoring the complex interplay between porphyria and a potential MYMK‐related neuromuscular phenotype. ABSTRACT Background Variegate porphyria is a rare heme biosynthesis disorder caused by pathogenic variants in the PPOX gene.
Viakhireva I +5 more
europepmc +2 more sources
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
doaj +2 more sources
Acute intermittent porphyria: a test of clinical acumen
Journal of Community Hospital Internal Medicine Perspectives, 2017 Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors.
Rashmi Dhital +3 more
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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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Journal of Medical Case Reports, 2022 Background Prompt diagnosis of metabolic disorders in a resource-limited country like Nepal is daunting. Acute intermittent porphyria is a rare but common hepatic porphyria mostly seen in females of the reproductive age group.
Sujata Baidya +10 more
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