A Rare Clinical Presentation of Variegate Porphyria [PDF]
Molecular Genetics & Genomic MedicineBackground Variegate porphyria is a rare heme biosynthesis disorder caused by pathogenic variants in the PPOX gene. Despite being relatively well characterized, its clinical manifestations are highly variable and can mimic a broad spectrum of ...
I. Viakhireva +5 more
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mRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacks [PDF]
Molecular Therapy - Nucleic Acids, 2021 Variegate porphyria (VP) results from haploinsufficiency of protoporphyrinogen oxidase (PPOX), the seventh enzyme in the heme synthesis pathway. There is no VP model that recapitulates the clinical manifestations of acute attacks.
Caroline Schmitt +2 more
exaly +4 more sources
Variegate Porphyria Triggered by Acute Hepatitis A Infection [PDF]
European Journal of Case Reports in Internal Medicine, 2020 Background: Variegate porphyria (VP) is a rare disorder of haem biosynthesis. We report a novel association with hepatitis A infection. Patient and methods: A 31-year-old man was diagnosed with acute hepatitis A infection. During recovery, he presented
Daniel Micallef +4 more
doaj +2 more sources
A 25-Hour Fast Among Quiescent Hereditary Coproporphyria and Variegate Porphyria Patients is Associated With a Low Risk of Complications [PDF]
Rambam Maimonides Medical Journal, 2023 Objective: In patients with acute hepatic porphyria (AHP), prolonged fasting is a known trigger of AHP attacks. Despite this, some Jewish AHP patients—mainly hereditary coproporphyria (HCP) and variegate porphyria (VP) patients—fast for 25 consecutive ...
Yonatan Edel +6 more
doaj +2 more sources
Homozygous variegate porphyria: Two cases misdiagnosed as erythropoietic protoporphyria [PDF]
Molecular Genetics and Metabolism ReportsHomozygous variegate porphyria (HVP) is an ultra-rare porphyria caused by biallelic pathogenic variants in PPOX. It typically presents with early childhood onset of cutaneous photosensitivity, including blistering, skin fragility, scarring, and poorly ...
Chenqing Wang +10 more
doaj +2 more sources
Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy [PDF]
Frontiers in Genetics, 2022 Background and aims: Porphyrias constitute a group of rare genetic diseases due to various, mostly autosomal dominant mutations, causing enzymatic deficiency in heme biosynthesis.
Edwige Collaud +7 more
doaj +2 more sources
Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review [PDF]
Orphanet Journal of Rare DiseasesBackground Genetic porphyrias, namely in their homozygous form, may cause a neurodevelopmental disorder which may even be the clinically dominant feature. But few cases have been described so far.
Nadja Kaiser +4 more
doaj +2 more sources
Greater disease burden of variegate porphyria than hereditary coproporphyria: An Israeli nationwide study of neurocutaneous porphyrias [PDF]
Molecular Genetics and Metabolism Reports, 2021 Hereditary coproporphyria (HCP) and variegate porphyria (VP) are referred to as neurocutaneous porphyrias (NCP). Data concerning their systemic presentation are limited and no direct attempt of comparison of the two has ever been made.
Ran Kaftory +7 more
doaj +2 more sources
A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review [PDF]
Italian Journal of Pediatrics, 2022 Variegate Porphyria (VP) is an inherited rare disorder that is caused by mutations in the protoporphyrinogen oxidase (PPOX) gene. This deficiency is associated with the accumulation of porphyrins and porphyrin precursors in the body, which, in turn, can ...
Mohammad Vafaee-Shahi +3 more
doaj +2 more sources
Sugammadex and amino acid infusion can contribute to safe anesthetic management of variegate porphyria [PDF]
JA Clinical Reports, 2018 Background Variegate porphyria (VP) is an inherited type of porphyria characterized by cutaneous manifestations and/or acute neurovisceral attacks. We report successful anesthetic management of VP.
Yoshitaka Aoki +4 more
doaj +2 more sources