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Variegate Porphyria - Crossref

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Last Updated: 20 May 2022

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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

Variegate Porphyria is an inheritable condition that is exacerbated by mutations in the prophyrinogen oxidase gene. This deficiency is related to the accumulation of porphyrins and porphyrin precursors in the body, which, in turn, can result in a variety of skin and neurological disorders. Here, we introduced a 7-year-old boy with homozygous VP and a novel mutation on the PPOX gene. The VP then reported a novel homozygous pathogenic variant in the PPOX gene, which confirmed the VP.

Source link: https://doi.org/10.1186/s13052-022-01215-8


Variegate porphyria induces plasma and neutrophil oxidative stress: effects of dietary supplementation with vitamins E and C

Our goal was to investigate the effect of variegate porphyria on plasma and neutrophils' antioxidant defenses and indicators of oxidative damage and inflammation, as well as the effects of dietary supplementation with vitamins E and C on these parameters in plasma, neutrophils, and erythrocytes. In a double-blind crossover study, twelve women affected by VP and twelve pair-matched healthy control women were included. Plasma antioxidant defenses were not different between porphyric and control women, and control women. Reactive oxygen species production from stimulated neutrophils was also higher in porphyric women than in controls. In conclusion, women impacted by VP have an inflammatory response, plasma oxidative damage, and neutrophils more vulnerable to the oxidative blast, with reduced antioxidant activities, improved ROS production capabilities, and protein oxidative damage. Vitamin E and vitamin C supplementation for six months reduced plasma oxidative damage in plasma and boosted the erythrocyte enzyme functions of CAT and GR.

Source link: https://doi.org/10.1017/s0007114509991413


Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

Abstract Variegate porphyria is a non-autosomal dominantly inherited hepatic porphyria. The PPOX gene mutation causes a partial absence of protoporphyrinogen oxidase, the penultimate enzyme of heme biosynthesis, as the penultimate enzyme in heme biosynthesis. Symptoms may appear in sun-exposed areas of the skin and/or neuropsychiatric acute attacks in Affected people. The identification of the genetic defect in VP families is of utmost importance in determining the carrier status, which allows advice to avoid potentially lethal neurovisceral attacks that can be triggered by such things as certain medications, alcohol, or fasting. In a total of 31 Swedish VP families sequence analysis, a genetic abnormality was detected in 26 of 26 people. For the first time, two partial deletions in the PPOX gene identified by MLPA analysis are presented here. Our results reveal that MLPA analysis as a complement to PPOX gene sequencing analysis for comprehensive genetic diagnostics in patients with VP.

Source link: https://doi.org/10.1186/1750-1172-8-13


Genetic and biochemical studies in Argentinean patients with variegate porphyria

Introduction to Protegerinogen Oxase, a partial deficiency that causes the mixed disorder Variegate Porphyria, Argentina's second common acute porphyria. The identification of patients with an overt VP is highly critical, but more critical is the identification of asymptomatic relatives in order to prevent acute attacks that may lead to death. Methods We have performed at molecular level 18 new Argentinean patients who have been biochemically classified as VPs. In one or in twelve PCR reactions, the PPOX gene was amplified. Two of the single nucleotide substitutions, c. 471G> A and c. 807G> A and the insertion were near the splice donor sites in exons 5, 7 and intron 4 respectively, and intron 4 was close to the splice donor sites in exons 5, 7 and intron 4 respectively. The other single nucleotide substitution was a transversion in the last base of intron 7, g. 3912G > C, affecting the consensus acceptor splice site. In the first instance, an abnormal band of exon 5 skipping was discovered, but not in the first case. T. 101A> T, c. 995G> C, and c. 670 T > G, which resulted in p. E34V, p. G332A and W224G aminoacid substitutions in exons 3, 10, 7 and 7 respectively, with p. E34V, c. 101A> T, c. 72G> C, and T. 670 T > G. T> T, p. E34V, a In exons 3 and 9, respectively, two frameshift mutations, c. 133delT and c. 925delA, were detected. The first leads to a termination signal 22 codons downstream, and the second leads to a stop codon 5 codons downstream, and the second leads to a stop codon 5 codons downstream. Conclusion Molecular analysis of prospective family members revealed 14 people who were uninhibited carriers of VP.

Source link: https://doi.org/10.1186/1471-2350-9-54


Plasma Fluorescence Scanning and Fecal Porphyrin Analysis for the Diagnosis of Variegate Porphyria: Precise Determination of Sensitivity and Specificity with Detection of Protoporphyrinogen Oxidase Mutations as a Reference Standard

Plasma fluorescence scanning has been shown to be a more sensitive test for VP than traditional fecal chromatography. Methods: We analyzed all patients for whom the genotype and a plasma scan or fecal porphyrin results were available. Conclusions: Plasma fluorescence scanning was performed in 679 patients and in fecal analysis in 473 patients. Both tests were more accurate in adults than in children, and more for adults with disease symptoms than in asymptomatic carriers. Plasma scanning in a direct comparison of 168 adults revealed more sensitive results than fecal porphyrin analysis [sensitivity, 0. 96 vs. 0. 77]. Fecal coproporphyrin [area under the curve, 0. 87 percent] was a better predictor of VP than prophyrin [0. 80]. Conclusions: Plasma scanning is more reliable and specific for VP testing than fecal porphyrin analysis.

Source link: https://doi.org/10.1373/clinchem.2003.025213


Hepatocellular carcinoma in variegate porphyria: a case report and literature review

Variegate porphyria is an autosomal dominant acute hepatic porphyria characterized by photosensitivity and acute neurovisceral attacks. We report a case of a 48-year-old woman who was diagnosed with hepatocellular carcinoma after a brief history of right upper quadrant pain that was preceded by a few months of blistering lesions in sun-exposed areas. In at least eight cases, hepatocellular carcinoma in variegate porphyria was found. A analysis of the literature revealed that hepatocellular carcinoma in variegate porphyria has been present in at least eight cases. Retrospective and prospective cohort studies have shown a clear correlation between hepatic carcinoma and acute hepatic porphyrias.

Source link: https://doi.org/10.1177/0004563214557568

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions