420 results match your criteria Variegate Porphyria


The hydrogen bonding network involved Arg59 in human protoporphyrinogen IX oxidase is essential for enzyme activity.

Biochem Biophys Res Commun 2021 Apr 12;557:20-25. Epub 2021 Apr 12.

State Key Laboratory of Elemento-Organic Chemistry and Department of Chemical Biology, National Pesticide Engineering Research Center (Tianjin), Nankai University, 94 Weijin Road, Tianjin, 300071, China. Electronic address:

Protoporphyrinogen IX oxidase (PPO) is the last common enzyme in chlorophyll and heme biosynthesis pathways. In human, point mutations on PPO are responsible for the dominantly inherited disorder disease, Variegate Porphyria (VP). Of the VP-causing mutation site, the Arg59 is by far the most prevalent VP mutation residue identified. Read More

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Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients.

Mol Genet Genomic Med 2021 Mar 25:e1059. Epub 2021 Mar 25.

Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), Hospital de Clínicas José de San Martín, CONICET-UBA, Buenos Aires, Argentina.

Background: Acute Hepatic Porphyrias (AHPs) are characterized by an acute neuroabdominal syndrome including both neuropsychiatric symptoms and neurodegenerative changes. Two main hypotheses explain the pathogenesis of nervous system dysfunction: (a) the ROS generation by autooxidation of 5-aminolevulinic acid accumulated in liver and brain; (b) liver heme deficiency and in neural tissues that generate an oxidative status, a component of the neurodegenerative process.

Methods: We review results obtained from Acute Intermittent Porphyria (AIP) and Variegate Porphyria (VP) families studied at clinical, biochemical, and molecular level at the CIPYP in Argentina. Read More

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Acute Variegate Porphyria in a Professional Bodybuilder after Starting a High-protein Diet and Treatment with Testosterone.

Acta Derm Venereol 2021 Mar 11;101(3):adv00412. Epub 2021 Mar 11.

Department of Dermatology, University Hospital, Ruprecht-Karls-University of Heidelberg, DE-69120 Heidelberg, Germany.

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Greater disease burden of variegate porphyria than hereditary coproporphyria: An Israeli nationwide study of neurocutaneous porphyrias.

Mol Genet Metab Rep 2021 Mar 13;26:100707. Epub 2021 Jan 13.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.

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. Our aim was to describe the type and frequency of systemic manifestations of NCPs in Israeli patients. Read More

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Variegate Porphyria Triggered by Acute Hepatitis A Infection.

Eur J Case Rep Intern Med 2020 22;7(12):001688. Epub 2020 Sep 22.

Department of Dermatology, Mater Dei Hospital, Msida, Malta.

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. Read More

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September 2020

Clinical features of genetic cutaneous porphyrias in Israel: A nationwide survey.

Photodermatol Photoimmunol Photomed 2020 Dec 11. Epub 2020 Dec 11.

Division of Dermatology, Photodermatosis Service, Rabin Medical Center, Petah Tikva, Israel.

Background: There are three major types of genetic cutaneous porphyrias (GCP): erythropoietic protoporphyria (EPP), variegate porphyria (VP), and hereditary coproporphyria (HCP). Scarce data are available regarding their impact on patients' quality of life in the Mediterranean region.

Purpose: To describe the cutaneous features of GCP in Israel. Read More

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December 2020

Comparative characterization of sun exposed and sun protected skin-derived mesenchymal-like stem cells in variegate porphyria and healthy individuals.

Photodermatol Photoimmunol Photomed 2020 Dec 1. Epub 2020 Dec 1.

Faculty of Medicine, Dermatology Department, American University of Beirut, Beirut, Lebanon.

Background And Purpose: We hypothesized that upon sun exposure, a sub-population of primary skin-derived mesenchymal-like cells is deleteriously affected and thus contribute to the chronic inflammatory state in autosomal recessive variegate porphyria patients. The aim of this study was to isolate and characterize the mesenchymal-like stem cells from different areas of the skin in a porphyria patient (sun exposed, SE, and sun protected, SP) and to compare them with cells from a healthy individual.

Methods: The proliferation rate and the migration ability of SE and SP cells were evaluated in the presence of an antioxidant compound, N-acetylcysteine. Read More

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December 2020

Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria.

Clin Chim Acta 2021 Jan 4;512:117-120. Epub 2020 Nov 4.

Department of Pathology, The University of Hong Kong, Hong Kong, China. Electronic address:

Introduction: Variegate porphyria (VP; OMIM 176200) is one of the acute hepatic porphyrias, and it is characterized by the partial deficiency of protoporphyrinogen oxidase (PPOX). The unusual homozygous variant with mutations on both alleles of PPOX is distinguished with general heterozygous VP by several typical points such as severe defect in PPOX enzyme activity, early onset of photosensitivity before puberty, and skeletal deformity.

Material And Method: In this study, we describe a very rare case of autosomal recessive form of true homozygous VP found in a Chinese patient with consanguineous parents. Read More

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January 2021

Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium.

Hepatology 2021 May 11;73(5):1736-1746. Epub 2020 Dec 11.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.

Background And Aims: The risk for hepatocellular carcinoma (HCC) is increased in acute hepatic porphyrias (AHP). The aim of this study was to explore the clinicopathologic characteristics, outcomes, and frequency of HCC in patients with AHP in the United States.

Approach And Results: This cross-sectional analysis evaluated patients with HCC in a multicenter, longitudinal study of AHP. Read More

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Hyperhomocysteinemia in patients with acute porphyrias: A potentially dangerous metabolic crossroad?

Eur J Intern Med 2020 09 31;79:101-107. Epub 2020 May 31.

Unit of Internal Medicine, Department of Medical and Surgical Science for Children and Adults, University of Modena and Reggio Emilia, Italy.

Background: Acute porphyrias (AP) are characterized by heme deficiency and induction of hepatic 5-aminolevulinate synthase (ALAS1). Hyperhomocysteinemia (HHcy) is associated with endothelial damage, neurotoxicity and increased risk for vascular diseases. Interestingly, both heme biosynthesis and sulphur amino acid metabolism require vitamin B6, (Pyridoxal-phosphate, PLP) an important cofactor of ALAS1 and of cystathionine β-synthase (CBS) and cystathionine γ-lyase (CGL) enzymes that catabolize homocysteine (Hcy). Read More

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September 2020

Two new mutations in the PPOX gene in a patient with variegate porphyria.

J Dtsch Dermatol Ges 2020 Apr 4;18(4):381-383. Epub 2020 Apr 4.

Servicio de Inmunología, Unidad de Gestión Clínica de Hematología, Inmunología y Genética, Hospital Universitario Puerta del Mar, Cádiz, Spain.

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Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study.

Orphanet J Rare Dis 2020 02 21;15(1):56. Epub 2020 Feb 21.

Norwegian Organisation for Quality Improvement of Laboratory Examinations (NOKLUS), Haraldsplass Deaconess Hospital, Bergen, Norway.

Background: Acute hepatic porphyria (AHP) consists of three rare metabolic disorders. We investigated the risk of long-term sick leave, disability pension, and premature death in individuals with AHP compared to the general population.

Methods: In a nationwide cohort study from 1992 to 2017, records of 333 persons (total person-years = 6728) with a confirmed AHP diagnosis were linked to several national compulsory registries (reference population = 5,819,937). Read More

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February 2020

Penetrance and predictive value of genetic screening in acute porphyria.

Mol Genet Metab 2020 05 10;130(1):87-99. Epub 2020 Feb 10.

Helsinki University Hospital, Department of Medicine, Finland. Electronic address:

Objective: Penetrance, predictive value and female patients' perspectives on genetic testing were evaluated among Finnish patients with acute porphyria. We conducted a retrospective study to evaluate prognosis among at-risk female family members depending on the primary method of diagnosis.

Methods: The penetrance was calculated among 23 genetically heterogeneous families selected from the Finnish porphyria registry (n = 515, AIP 333; VP 182). Read More

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Acute porphyrias: a German monocentric study of the biochemical, molecular genetic, and clinical data of 62 families.

Ann Hematol 2019 Dec 19;98(12):2683-2691. Epub 2019 Nov 19.

EPNET Clinical Center Munich, Hematology Oncology Center and Ludwig Maximilians University Munich, Zweibrückenstr.2, 80331, Munich, Germany.

In Germany, analyses of clinical and laboratory features of patients with acute porphyrias are only available for hereditary coproporphyria (HCP) but not with other acute porphyrias, acute intermittent porphyria (AIP) and variegate porphyria (VP). The aim of the study was to analyze a large cohort of patients with particular focus upon quality of life aspects. Sixty-two individuals from separate families with acute porphyrias (57 AIP, 5 VP) were included into an observational study collecting biochemical, genetic, and clinical data. Read More

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December 2019

Porphyria-induced posterior reversible encephalopathy syndrome and central nervous system dysfunction.

Mol Genet Metab 2019 11 1;128(3):242-253. Epub 2019 Nov 1.

Section on Gastroenterology & Hepatology, Wake Forest University School of Medicine/NC Baptist Hospital, Winston-Salem, United States of America.. Electronic address:

Background And Aim: An association between neuropsychiatric manifestations and neuroimaging suggestive of posterior reversible encephalopathy syndrome (PRES) during porphyric attacks has been described in numerous case reports. We aimed to systematically review clinical-radiological features and likely pathogenic mechanisms of PRES in patients with acute hepatic porphyrias (AHP) and porphyric attacks.

Methods: PubMed, Scopus, Ovid MEDLINE, and Google Scholar were searched (July 30, 2019). Read More

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November 2019

Neurological and neuropsychiatric manifestations of porphyria.

Int J Neurosci 2019 Dec 1;129(12):1226-1233. Epub 2019 Sep 1.

Department of Physiology and Biophysics, Stony Brook University Renaissance School of Medicine , New York , NY , USA.

Porphyrias are inherited disorders of the heme biosynthetic pathway, usually characterized by dermatological changes due to the accumulation of byproducts in the pathway. Select porphyrias also affect the nervous system, namely hereditary coproporphyria, acute intermittent porphyria and variegate porphyria. Complications include paralysis, hyponatremia which can risk central pontine myelinolysis, seizures and coma. Read More

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December 2019

Heme biosynthesis and the porphyrias.

Authors:
John D Phillips

Mol Genet Metab 2019 11 22;128(3):164-177. Epub 2019 Apr 22.

Division of Hematology, Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT, United States of America. Electronic address:

Porphyrias, is a general term for a group of metabolic diseases that are genetic in nature. In each specific porphyria the activity of specific enzymes in the heme biosynthetic pathway is defective and leads to accumulation of pathway intermediates. Phenotypically, each disease leads to either neurologic and/or photocutaneous symptoms based on the metabolic intermediate that accumulates. Read More

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November 2019

Epidemiology of cutaneous porphyria in Israel: a nationwide cohort study.

J Eur Acad Dermatol Venereol 2020 Jan 16;34(1):184-187. Epub 2019 Jul 16.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Background: From a dermatologist's perspective, there are four major types of cutaneous porphyrias (CPs): porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP), variegate porphyria (VP) and hereditary coproporphyria (HCP). Scarce data are available regarding the epidemiology of CPs.

Objectives: To describe the epidemiology of CPs in Israel, including distribution, incidence and prevalence rates of major types. Read More

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January 2020

A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.

Scand J Clin Lab Invest 2019 Sep 1;79(5):305-313. Epub 2019 Jun 1.

a Institute of Laboratory Medicine, Triemli Hospital , Zurich , Switzerland.

Molecular diagnosis of autosomal dominant acute hepatic porphyrias (AHPs) plays an important role in the management of these disorders. To introduce next generation sequencing (NGS) to the porphyria diagnosis, we designed a panel that contained four genes, , and for mutational analysis of acute intermittent porphyria (AIP), hereditary coproporphyria (HCP) and variegate porphyria (VP). To validate the AHP panel, 30 samples with known pathogenic variants as determined by Sanger sequencing, were analyzed using the Ion PGM™. Read More

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September 2019

Not Your Ordinary Rash.

Clin Chem 2019 06;65(6):733-737

Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH;

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Clinical Guide and Update on Porphyrias.

Gastroenterology 2019 08 11;157(2):365-381.e4. Epub 2019 May 11.

Institute of Translational Immunology and Research Center for Immune Therapy, University Medical Center, Johannes Gutenberg University, Mainz, Germany; Division of Gastroenterology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts. Electronic address:

Physicians should be aware of porphyrias, which could be responsible for unexplained gastrointestinal, neurologic, or skin disorders. Despite their relative rarity and complexity, most porphyrias can be easily defined and diagnosed. They are caused by well-characterized enzyme defects in the complex heme biosynthetic pathway and are divided into categories of acute vs non-acute or hepatic vs erythropoietic porphyrias. Read More

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International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.

Genet Med 2019 11 10;21(11):2605-2613. Epub 2019 May 10.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

With the advent of precision and genomic medicine, a critical issue is whether a disease gene variant is pathogenic or benign. Such is the case for the three autosomal dominant acute hepatic porphyrias (AHPs), including acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria, each resulting from the half-normal enzymatic activities of hydroxymethylbilane synthase, coproporphyrinogen oxidase, and protoporphyrinogen oxidase, respectively. To date, there is no public database that documents the likely pathogenicity of variants causing the porphyrias, and more specifically, the AHPs with biochemically and clinically verified information. Read More

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November 2019

Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs).

Mol Genet Metab 2019 11 6;128(3):213-218. Epub 2019 Mar 6.

Section on Gastroenterology & Hepatology, Wake Forest University School of Medicine/NC Baptist Hospital, Winston-Salem, NC 27157, United States of America.

The acute hepatic porphyrias include four disorders: acute intermittent porphyria [AIP], hereditary coproporphyria [HCP], variegate porphyria [VP], and the rare porphyria due to severe deficiency of ALA dehydratase [ADP]. In the USA, AIP is the most severe and most often symptomatic. AIP, HCP, and VP are due to autosomal dominant genetic abnormalities, in which missense, nonsense, or other mutations of genes of normal hepatic heme biosynthesis, in concert with other environmental, nutritional, hormonal and genetic factors, may lead to a critical deficiency of heme, the end-product of the pathway, in a small but critical 'regulatory pool' within hepatocytes. Read More

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November 2019

[A case report of variegate porphyria maenisfeseting as phototoxicity].

Zhonghua Nei Ke Za Zhi 2019 Apr;58(4):311-314

Department of Endocrinology, The Second Hospital of Hebei Medical University, Shijiazhuang 050000, China.

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Unusual presentation of severe photosensitivity and neurodevelopmental delay in a consanguineous family.

Clin Exp Dermatol 2020 Jan 12;45(1):117-119. Epub 2019 Mar 12.

Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon.

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January 2020

Acute Hepatic Porphyrias: Review and Recent Progress.

Hepatol Commun 2019 Feb 20;3(2):193-206. Epub 2018 Dec 20.

Section of Gastroenterology and Hepatology, Department of Internal Medicine Wake Forest University School of Medicine Winston-Salem NC.

The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms. The four types are 5-aminolevulinic acid (ALA) dehydratase deficiency porphyria, acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria. Their diagnoses are often missed or delayed because the clinical symptoms mimic other more common disorders. Read More

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February 2019

Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.

Mol Genet Metab 2019 11 18;128(3):332-341. Epub 2019 Jan 18.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

Mouse models of the human porphyrias have proven useful for investigations of disease pathogenesis and to facilitate the development of new therapeutic approaches. To date, mouse models have been generated for all major porphyrias, with the exception of X-linked protoporphyria (XLP) and the ultra rare 5-aminolevulinic acid dehydratase deficient porphyria (ADP). Mouse models have been generated for the three autosomal dominant acute hepatic porphyrias, acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP). Read More

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November 2019