391 results match your criteria Variegate Porphyria


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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http://dx.doi.org/10.1002/hep4.1297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357830PMC
February 2019
1 Read

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

Mol Genet Metab 2019 Jan 18. 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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http://dx.doi.org/10.1016/j.ymgme.2019.01.007DOI Listing
January 2019
2 Reads

Nonconvulsive status epilepticus secondary to acute porphyria crisis.

Epilepsy Behav Case Rep 2019 28;11:43-46. Epub 2018 Nov 28.

Department of Neurology, Mayo Clinic, 5777 East Mayo Boulevard, Phoenix, AZ 85054, USA.

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. Convulsive status epilepticus and epilepsia partialis continua are rare and have been described on a case report basis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22133232183012
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http://dx.doi.org/10.1016/j.ebcr.2018.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327909PMC
November 2018
10 Reads

Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.

Mol Genet Metab 2018 Nov 30. Epub 2018 Nov 30.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States. Electronic address:

The inborn errors of heme biosynthesis, the Porphyrias, include eight major disorders resulting from loss-of-function (LOF) or gain-of-function (GOF) mutations in eight of the nine heme biosynthetic genes. The major sites of heme biosynthesis are the liver and erythron, and the underlying pathophysiology of each of these disorders depends on the unique biochemistry, cell biology, and genetic mechanisms in these tissues. The porphyrias are classified into three major categories: 1) the acute hepatic porphyrias (AHPs), including Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), and 5-Aminolevlulinic Acid Dehydratase Deficient Porphyria (ADP); 2) a hepatic cutaneous porphyria, Porphyria Cutanea Tarda (PCT); and 3) the cutaneous erythropoietic porphyrias, Congenital Erythropoietic Porphyria (CEP), Erythropoietic Protoporphyria (EPP), and X-Linked Protoporphyria (XLP). Read More

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http://dx.doi.org/10.1016/j.ymgme.2018.11.012DOI Listing
November 2018
2 Reads

Posterior Reversible Encephalopathy Syndrome in a Patient with Variegate Porphyria: A Case Report.

Cureus 2018 Sep 24;10(9):e3351. Epub 2018 Sep 24.

Orthopaedics, Dow University of Health Sciences, Karachi, PAK.

Variegate porphyria (VP) is one of the groups of rare inherited disorders of hemoglobin synthesis called Porphyria. It has two distinct manifestations, that is, those of cutaneous and nervous system. Posterior reversible encephalopathy syndrome (PRES) is a rare complication of porphyria. Read More

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http://dx.doi.org/10.7759/cureus.3351DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6255715PMC
September 2018
1 Read

Molecular analysis of 19 Spanish patients with mixed porphyrias.

Eur J Med Genet 2018 Nov 23. Epub 2018 Nov 23.

Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain. Electronic address:

Porphyrias are rare diseases caused by alterations in the heme biosynthetic pathway. Depending on the afected enzyme, porphyrin precursors or porphyrins are overproduced, causing acute neurovisceral attacks or dermal photosensitivity, respectively. Hereditary Coproporphyria (HCP) and Variegate Porphyria (VP) are mixed porphyrias since they can present acute and/or cutaneous symptoms. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.023DOI Listing
November 2018
3 Reads

Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword.

Mol Genet Metab 2018 Oct 9. Epub 2018 Oct 9.

UMRs 1149, Centre de Recherche sur l'Inflammation, Institut National de la Santé et de la Recherche Médicale, F-75018 Paris, France; Assistance Publique-Hôpitaux de Paris, HUPNVS Centre Français des Porphyries, Hôpital Louis Mourier, 178 Rue des Renouillers, F-92701 Colombes, France; Laboratory of Excellence Gr-Ex, France; Université Paris Diderot, UFR de Médecine Xavier Bichat, F-75018 Paris, France.

Porphyrias are inherited diseases with low penetrance affecting the heme biosynthesis pathway. Acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP) together constitute the acute hepatic porphyrias (AHP). These diseases have been identified as risk factors for primary liver cancers (PLC), mainly hepatocellular carcinoma (HCC: range 87-100%) but also cholangiocarcinoma, alone or combination with HCC. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183048
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http://dx.doi.org/10.1016/j.ymgme.2018.10.001DOI Listing
October 2018
8 Reads
2.625 Impact Factor

Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.

Mol Genet Metab 2018 Oct 26. Epub 2018 Oct 26.

Icahn School of Medicine at Mount Sinai, Department of Genetics and Genomic Sciences, New York, NY 10029, USA. Electronic address:

The acute hepatic porphyrias (AHPs) are inborn errors of heme biosynthesis, which include three autosomal dominant porphyrias, Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), and Variegate Porphyria (VP), and the ultra-rare autosomal recessive porphyria, δ-Aminolevulinic Acid Dehydratase Deficiency Porphyria (ADP). AIP, HCP, VP, and ADP each results from loss-of-function (LOF) mutations in their disease-causing genes: hydroxymethylbilane synthase (HMBS); coproporphyrinogen oxidase (CPOX); protoporphyrinogen oxidase (PPOX), and δ-aminolevulinic acid dehydratase (ALAD), respectively. During the 11-year period from January 1, 2007 through December 31, 2017, the Mount Sinai Porphyrias Diagnostic Laboratory diagnosed 315 unrelated AIP individuals with HMBS mutations, including 46 previously unreported mutations, 29 unrelated HCP individuals with CPOX mutations, including 11 previously unreported mutations, and 54 unrelated VP individuals with PPOX mutations, including 20 previously unreported mutations. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183048
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http://dx.doi.org/10.1016/j.ymgme.2018.10.008DOI Listing
October 2018
20 Reads

Porphyria: What Is It and Who Should Be Evaluated?

Rambam Maimonides Med J 2018 04 19;9(2). Epub 2018 Apr 19.

Porphyria Center, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.

The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme. Neurovisceral porphyrias are characterized by acute attacks, in which excessive heme production is induced following exposure to a trigger. An acute attack usually presents with severe abdominal pain, vomiting, and tachycardia. Read More

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http://dx.doi.org/10.5041/RMMJ.10333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916231PMC
April 2018
6 Reads

Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.

Endocrine 2018 09 7;61(3):403-406. Epub 2018 Mar 7.

Department of Clinical and Biological Sciences, Internal Medicine, San Luigi Gonzaga Hospital, Orbassano, University of Turin, Torino, Italy.

Purpose: Acute porphyrias are metabolic disorders of heme biosynthesis characterized by acute life-threatening attacks. The diagnosis is often missed since clinical presentation is aspecific mimicking other medical and surgical conditions. Variegate porphyria (VP) is an autosomal dominant inherited disease with incomplete penetrance due to decreased activity of the Protoporphyrinogen Oxydase (PPOX) gene; most VP mutations are family specific. Read More

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http://dx.doi.org/10.1007/s12020-018-1569-5DOI Listing
September 2018
8 Reads

An overview of the cutaneous porphyrias.

Authors:
Robert Dawe

F1000Res 2017 30;6:1906. Epub 2017 Oct 30.

Scottish Cutaneous Porphyria Service, Scottish Photodiagnostic Unit, Department of Dermatology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK.

This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature. The cutaneous porphyrias are a diverse group of conditions due to inherited or acquired enzyme defects in the porphyrin-haem biosynthetic pathway. Read More

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http://dx.doi.org/10.12688/f1000research.10101.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664971PMC
October 2017
16 Reads

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Int J Dermatol 2017 Dec;56(12):1406-1413

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Background: Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study.

Methods: Homozygosity mapping, exome, and Sanger sequencing were employed to search for the disease-causing variants in the 10 families. Read More

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http://dx.doi.org/10.1111/ijd.13778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094939PMC
December 2017
46 Reads
1.227 Impact Factor

Novel heterozygous mutation of protoporphyrinogen oxidase gene in a Chinese patient with variegate porphyria.

J Dermatol 2017 Dec 22;44(12):e317-e318. Epub 2017 Jul 22.

Department of Dermatology, Rui Jin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

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http://doi.wiley.com/10.1111/1346-8138.13982
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http://dx.doi.org/10.1111/1346-8138.13982DOI Listing
December 2017
7 Reads

Acute hepatic porphyria and cancer risk: a nationwide cohort study.

J Intern Med 2017 09 20;282(3):229-240. Epub 2017 Jul 20.

Centre for Disease Burden, Domain for Mental and Physical Health, Norwegian Institute of Public Health, Bergen, Norway.

Background: Acute hepatic porphyria (AHP) is considered to be a risk factor for primary liver cancer (PLC), but varying risk estimates have been published.

Objectives: Our aim was to investigate the risk of PLC and other cancers in persons with AHP using a nationwide cohort design. Given that greater numbers of women than men tend to have manifest and more severe AHP, a further aim was to investigate sex differences in this risk. Read More

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http://dx.doi.org/10.1111/joim.12646DOI Listing
September 2017
28 Reads

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.

Ann Intern Med 2017 08 27;167(3):159-169. Epub 2017 Jun 27.

From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.

Background: Whole-genome sequencing (WGS) in asymptomatic adults might prevent disease but increase health care use without clinical value.

Objective: To describe the effect on clinical care and outcomes of adding WGS to standardized family history assessment in primary care.

Design: Pilot randomized trial. Read More

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http://dx.doi.org/10.7326/M17-0188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5856654PMC
August 2017
132 Reads

An Unusual Cause of Headache and Fatigue in a Division 1 Collegiate Athlete.

Clin J Sport Med 2017 Jul;27(4):e58-e59

UBMD Orthopaedics & Sports Medicine Department, University at Buffalo.

Variegate porphyria (VP) is an autosomal dominant disorder of porphyrin metabolism. We report a case of a 21-year-old male collegiate athlete who complained of recurrent headache and fatigue. Extensive testing after initial presentation failed to identify a cause. Read More

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http://dx.doi.org/10.1097/JSM.0000000000000350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5491239PMC
July 2017
10 Reads

Avoid missing a rare condition by colouring your judgment purple.

BMJ 2017 04 20;357:j1489. Epub 2017 Apr 20.

Department of dermatology, Heart of England NHS Foundation Trust, Birmingham, UK.

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http://dx.doi.org/10.1136/bmj.j1489DOI Listing
April 2017
2 Reads

Porphyria cutanea tarda: an intriguing genetic disease and marker.

Int J Dermatol 2017 Jun 21;56(6):e106-e117. Epub 2017 Mar 21.

Dermatology, Rutgers New Jersey Medical School, Newark, NJ, USA.

Porphyrias are a group of intriguing genetic diseases of the heme pathway, of which porphyria cutanea tarda (PCT) is the most common. Resulting from a defect in enzymes in the porphyria pathway, PCT has been linked to several conditions. Recent studies have demonstrated a change in thinking regarding the human immunodeficiency virus (HIV) and development of PCT. Read More

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http://dx.doi.org/10.1111/ijd.13580DOI Listing
June 2017
6 Reads

Update review of the acute porphyrias.

Br J Haematol 2017 02 16;176(4):527-538. Epub 2016 Dec 16.

Department of Haematological Medicine, King's College Hospital, London, UK.

Acute porphyrias are rare inherited disorders due to deficiencies of haem synthesis enzymes. To date, all UK cases have been one of the three autosomal dominant forms, although penetrance is low and most gene carriers remain asymptomatic. Clinical presentation is typically with acute neurovisceral attacks characterised by severe abdominal pain, vomiting, tachycardia and hypertension. Read More

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http://dx.doi.org/10.1111/bjh.14459DOI Listing
February 2017
30 Reads

Elective cholecystectomy performed on patient with variegate porphyria-Propofol-based total intravenous anesthesia with target-controlled infusion.

J Clin Anesth 2016 Dec 11;35:114-117. Epub 2016 Aug 11.

Department and Clinic of Anesthesiology and Intensive Care, Wroclaw Medical University, Wrocław, Poland.

Porphyria is caused by disorders of enzymes that synthetize porphyrins. Both elective and emergency surgical procedures on patient suffering from porphyria may provoke acute symptoms. These patients require special anesthetic management since some of commonly used anesthetic agents may also induce acute manifestation of porphyria. Read More

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http://dx.doi.org/10.1016/j.jclinane.2016.06.014DOI Listing
December 2016
8 Reads

Hepatic porphyria: A narrative review.

Indian J Gastroenterol 2016 Nov 31;35(6):405-418. Epub 2016 Oct 31.

Department of Internal Medicine, UAB University of Alabama in Birmingham, Birmingham, AL, USA.

Porphyrias are a group of metabolic disorders, which result from a specific abnormality in one of the eight enzymes of the heme biosynthetic pathway. These have been subdivided based on the predominant site of enzyme defect into hepatic and erythropoietic types and based on clinical presentation into acute neurovisceral and cutaneous blistering porphyrias. This review focuses on hepatic porphyrias, which include acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), aminolevulinic acid dehydratase deficiency porphyria (ADP), and porphyria cutanea tarda (PCT). Read More

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http://dx.doi.org/10.1007/s12664-016-0698-0DOI Listing
November 2016
22 Reads

Acute Porphyria Presenting as Major Trauma: Case Report and Literature Review.

J Emerg Med 2016 Nov 10;51(5):e115-e122. Epub 2016 Sep 10.

Department of Trauma and Emergency Surgery, King's College Hospital NHS Foundation Trust, London, UK.

Background: Acute porphyria is historically known as "the little imitator" in reference to its reputation as a notoriously difficult diagnosis. Variegate porphyria is one of the four acute porphyrias, and can present with both blistering cutaneous lesions and acute neurovisceral attacks involving abdominal pain, neuropsychiatric features, neuropathy, hyponatremia, and a vast array of other nonspecific clinical features.

Case Report: A 40-year-old man presented to the Emergency Department (ED) as a major trauma call, having been found in an "acutely confused state" surrounded by broken glass. Read More

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http://dx.doi.org/10.1016/j.jemermed.2016.06.058DOI Listing
November 2016
15 Reads

Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients.

PLoS One 2016 27;11(10):e0164857. Epub 2016 Oct 27.

Laboratory for Physical Activity Sciences. Research Group in Community Nutrition and Oxidative Stress. Department of Basic Biology and Health Sciences. IUNICS, University of Balearic Islands, Palma, Spain.

The aims of the present study were to explore the expression pattern of haem biosynthesis enzymes in circulating cells of patients affected by two types of porphyria (acute intermittent, AIP, and variegate porphyria, VP), together with the antioxidant enzyme pattern in AIP in order to identify a possible situation of oxidative stress. Sixteen and twelve patients affected by AIP and VP, respectively, were analysed with the same numbers of healthy matched controls. Erythrocytes, neutrophils and peripheral blood mononuclear cells (PBMCs) were purified from blood, and RNA and proteins were extracted for quantitative real time PCR (qRT-PCR) and Western-blot analysis, respectively. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0164857PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082889PMC
June 2017
14 Reads

Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient.

Intern Med 2016;55(20):2965-2969. Epub 2016 Oct 15.

Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Japan.

Variegate porphyria (VP) is an autosomal dominant disease caused by mutations of the protoporphyrinogen oxidase (PPOX) gene. This porphyria has unique characteristics which can induce acute neurovisceral attacks and cutaneous lesions that may occur separately or together. We herin report a 58-years-old VP patient complicated with cholelithiasis. Read More

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http://dx.doi.org/10.2169/internalmedicine.55.7108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109563PMC
February 2017
12 Reads

The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1.

Blood Cells Mol Dis 2016 10 17;61:48-53. Epub 2016 Aug 17.

Fondazione IRCCS Cà Granda-Ospedale Maggiore Policlinico, U.O. di Medicina Interna, Milano, Italy. Electronic address:

The PPOX gene encodes for the protoporphyrinogen oxidase, which is involved in heme production. The partial deficiency of protoporphyrinogen oxidase causes variegate porphyria. The tissue-specific regulation of other heme biosynthetic enzymes is extensively studied, but the information concerning transcriptional and post-transcriptional regulation of PPOX gene expression is scarcely available. Read More

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http://dx.doi.org/10.1016/j.bcmd.2016.08.002DOI Listing
October 2016
40 Reads

Haplotype Study in Argentinean Variegate Porphyria Patients.

Hum Hered 2015 24;80(3):139-43. Epub 2016 May 24.

Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP) CONICET, Hospital de Clx00ED;nicas Josx00E9; de San Martx00ED;n - UBA, Buenos Aires, Argentina.

Background/aims: The porphyrias are genetically heterogeneous diseases, and each mutation is exclusive to one or two families. Among the mutations responsible for variegate porphyria in our country, c.1042_1043insT stands out, since it was described only in Argentina and is present in about 40% of genetically diagnosed families. Read More

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http://dx.doi.org/10.1159/000445749DOI Listing
October 2017
9 Reads

Acute variegate porphyria presenting with reversible cerebral vasoconstriction.

Clin Neurol Neurosurg 2016 Jul 6;146:102-4. Epub 2016 May 6.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1016/j.clineuro.2016.04.018DOI Listing
July 2016
4 Reads

Cutaneous Porphyrias: Causes, Symptoms, Treatments and the Danish Incidence 1989-2013.

Acta Derm Venereol 2016 Nov;96(7):868-872

Department of Clinical Biochemistry and Pharmacology, Odense University Hospital, 5000 Odense C, Denmark.

Porphyrias are rare diseases caused by altered haem synthesis leading to the accumulation of different haem intermediates. Neurovisceral attacks may occur in acute porphyrias, while photosensitivity is the presenting symptom in cutaneous porphyrias. We present here an overview of symptoms and a flowchart for the diagnosis of cutaneous porphyrias, with recommendations for monitoring and an update of treatment options. Read More

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http://dx.doi.org/10.2340/00015555-2444DOI Listing
November 2016
20 Reads

Safe use of perampanel in a carrier of variegate porphyria.

Pract Neurol 2016 Jun 2;16(3):217-9. Epub 2016 Feb 2.

Department of Clinical and Experimental Epilepsy, NIHR University College London Hospitals Biomedical Research Centre, UCL Institute of Neurology, London, UK Epilepsy Society, Chalfont St Peter, UK.

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http://dx.doi.org/10.1136/practneurol-2015-001305DOI Listing
June 2016
4 Reads

Severe porphyric neuropathy--importance of screening for porphyria in Guillain-Barré syndrome.

S Afr Med J 2015 Nov 20;106(1):44-7. Epub 2015 Nov 20.

Department of Neurology, School of Medicine, Faculty of Health Sciences, University of Pretoria, South Africa.

The hepatic porphyrias are a group of rare metabolic disorders, each of which is associated with a specific enzymatic alteration in the haem biosynthesis pathway. In South Africa (SA), a high incidence of variegate porphyria (VP) is seen as a result of a founder effect, but acute intermittent porphyria (AIP) is also encountered. The development of acute neurovisceral attacks is related to environmental factors, including medications, hormones and diet. Read More

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http://dx.doi.org/10.7196/SAMJ.2016.v106i1.10118DOI Listing
November 2015
35 Reads

[Neurocutaneous porphyrias].

Authors:
J Frank

Hautarzt 2016 Mar;67(3):221-5

Hautklinik und Europäisches Porphyriezentrum, Universitätsklinikum der Heinrich-Heine-Universität Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland.

Porphyrias comprise a heterogeneous group of predominantly genetically determined metabolic diseases which are due to a dysfunction in heme biosynthesis. Variegate porphyria and hereditary coproporphyria are referred to as neurocutaneous porphyrias because affected patients can develop both cutaneous symptoms on light-exposed body sites and potentially life-threatening acute neurovisceral symptoms, thereby mimicking several other diseases. In this overview, we provide an update on pathogenesis, clinical manifestation, diagnosis, and therapy of these two types of porphyria. Read More

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http://dx.doi.org/10.1007/s00105-015-3745-3DOI Listing
March 2016
11 Reads

Characterisation of the flavin adenine dinucleotide binding region of protoporphyrinogen oxidase.

Biochem Biophys Rep 2015 Dec 29;4:306-311. Epub 2015 Oct 29.

Lennox Eales Porphyria Laboratories, Department of Medicine, University of Cape Town Medical School, K-floor, Old GSH Main Building, Observatory, Cape Town 7925, South Africa.

Protoporphyrinogen oxidase (PPOX), the penultimate enzyme in the haem biosynthetic pathway catalysers the six electron oxidation of protoporphyrinogen-IX to protoporphyrin-IX, in the presence of flavin adenine dinucleotide (FAD) and oxygen. In humans, partial defects in PPOX result in variegate porphyria. In this study, the FAD binding region in PPOX was analysed by engineering and characterising a selection of mutant proteins. Read More

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http://dx.doi.org/10.1016/j.bbrep.2015.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669401PMC
December 2015
4 Reads

Acute Porphyrias.

J Emerg Med 2015 Sep 7;49(3):305-12. Epub 2015 Jul 7.

Department of Medicine, University of Connecticut, Farmington, Connecticut; Department of Medicine, University of North Carolina, Chapel Hill, North Carolina.

Background: Porphyrias are a group of eight metabolic disorders characterized by defects in heme biosynthesis. Porphyrias are classified into two major categories: 1) the acute or inducible porphyrias and 2) the chronic cutaneous porphyrias. The acute hepatic porphyrias are further classified into acute intermittent porphyria (AIP), hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of delta-aminolevulinic acid (ALA) dehydratase (ALADP). Read More

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http://dx.doi.org/10.1016/j.jemermed.2015.04.034DOI Listing
September 2015
16 Reads

Butafenacil: A positive control for identifying anemia- and variegate porphyria-inducing chemicals.

Toxicol Rep 2015 13;2:976-983. Epub 2015 Jul 13.

Department of Environmental Health Sciences, Arnold School of Public Health, University of South Carolina, Columbia, SC 29208, USA.

Butafenacil is an herbicide that inhibits protoporphyrinogen oxidase (PPOX), an enzyme that catalyzes oxidation of protoporphyrinogen IX to protoporphyrin IX during chlorophyll and heme biosynthesis. Based on a high-content screen, we previously identified butafenacil as a potent inducer of anemia in zebrafish embryos. Therefore, the objective of this study was to begin investigating the utility of butafenacil as a positive control for identifying anemia- and variegate porphyria-inducing chemicals. Read More

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http://dx.doi.org/10.1016/j.toxrep.2015.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5598413PMC
July 2015
8 Reads

Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

Curr Protoc Hum Genet 2015 Jul 1;86:17.20.1-26. Epub 2015 Jul 1.

Department of Preventive Medicine and Community Health, The University of Texas Medical Branch, Galveston, Texas.

Porphyria diseases are a group of metabolic disorders caused by abnormal functioning of heme biosynthesis enzymes and characterized by excessive accumulation and excretion of porphyrins and their precursors. Precisely which of these chemicals builds up depends on the type of porphyria. Porphyria is not a single disease but a group of nine disorders: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), δ-aminolevulinic acid dehydratase deficiency porphyria (ADP), porphyria cutanea tarda (PCT), hepatoerythropoietic porphyria (HEP), congenital erythropoietic porphyria (CEP), erythropoietic protoporphyria (EPP), and X-linked protoporphyria (XLP). Read More

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http://dx.doi.org/10.1002/0471142905.hg1720s86DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4640448PMC
July 2015
29 Reads

FitzPatrick Lecture: King George III and the porphyria myth - causes, consequences and re-evaluation of his mental illness with computer diagnostics.

Authors:
Timothy Peters

Clin Med (Lond) 2015 Apr;15(2):168-72

Institute of Archaeology and Antiquity, University of Birmingham, UK

Recent studies have shown that the claim that King George III suffered from acute porphyria is seriously at fault. This article explores some of the causes of this misdiagnosis and the consequences of the misleading claims, also reporting on the nature of the king's recurrent mental illness according to computer diagnostics. In addition, techniques of cognitive archaeology are used to investigate the nature of the king's final decade of mental illness, which resulted in the appointment of the Prince of Wales as Prince Regent. Read More

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http://dx.doi.org/10.7861/clinmedicine.15-2-168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4953737PMC
April 2015
4 Reads

Characterization of variegate porphyria mutations using a minigene approach.

JIMD Rep 2015 1;20:39-44. Epub 2015 Feb 1.

Centro de Investigaciones sobre Porfirinas y Porfirias, Hospital de Clínicas José de San Martín, CONICET, Buenos Aires, Argentina.

Porphyrias are a group of metabolic diseases that affect the skin and/or nervous system. In 2008, three unrelated patients were diagnosed with variegate porphyria at the CIPYP (Centro de Investigaciones sobre Porfirinas y Porfirias). Sequencing of the protoporphyrinogen oxidase gene, the gene altered in this type of porphyria, revealed three previously undescribed mutations: c. Read More

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http://dx.doi.org/10.1007/8904_2014_388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375119PMC
March 2015
7 Reads

X-linked dominant protoporphyria: response to "Cutaneous porphyrias part 1".

Int J Dermatol 2015 Mar 17;54(3):e87-8. Epub 2014 Dec 17.

Department of Dermatology, Warwick Hospital, Warwick, UK.

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http://dx.doi.org/10.1111/ijd.12689DOI Listing
March 2015
9 Reads

Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.

J Hepatol 2015 Mar 28;62(3):734-8. Epub 2014 Nov 28.

Department of Dermatology, Maastricht University Medical Center (MUMC), The Netherlands; GROW - School for Oncology and Developmental Biology, Maastricht University Medical Center (MUMC), The Netherlands; Department of Dermatology and Skin Cancer Center and European Porphyria Specialist Center, Medical Faculty of the Heinrich Heine University, Düsseldorf, Germany. Electronic address:

Variegate porphyria (VP) and acute intermittent porphyria (AIP), the two most common types of acute porphyrias (AHPs), result from a partial deficiency of protoporphyrinogen oxidase (PPOX) and hydroxymethylbilane synthase (HMBS), respectively. A rare but serious complication in the AHPs is hepatocellular carcinoma (HCC). However, the underlying pathomechanisms are yet unknown. Read More

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http://dx.doi.org/10.1016/j.jhep.2014.11.029DOI Listing
March 2015
40 Reads
2 Citations
11.340 Impact Factor

Drugs and acute porphyrias: reasons for a hazardous relationship.

Postgrad Med 2014 Nov;126(7):108-20

Centre for Porphyrias and Diseases from Disturbances of Amino Acid Metabolism, Division of Internal Medicine II, Department of Medical and Surgical Sciences for Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.

The porphyrias are a group of metabolic diseases caused by inherited or acquired enzymatic deficiency in the metabolic pathway of heme biosynthesis. Simplistically, they can be considered as storage diseases, because the partial enzymatic defect gives rise to a metabolic "bottleneck" in the biosynthetic pathway and hence to an accumulation of different metabolic intermediates, potentially toxic and responsible for the various (cutaneous or neurovisceral) clinical manifestations observed in these diseases. In the acute porphyrias (acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and the very rare delta-aminolevulinic acid dehydratase ALAD-d porphyria), the characteristic severe neurovisceral involvement is mainly ascribed to a tissue accumulation of delta-aminolevulinic acid, a neurotoxic nonporphyrin precursor. Read More

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http://dx.doi.org/10.3810/pgm.2014.11.2839DOI Listing
November 2014
12 Reads

Clinically important features of porphyrin and heme metabolism and the porphyrias.

Metabolites 2014 Nov 3;4(4):977-1006. Epub 2014 Nov 3.

Department of Medicine, Universities of CT, Farmington, CT 06030 and North Carolina, Chapel Hill, NC 27599, USA.

Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias. Porphyrias are classified as hepatic and erythropoietic porphyrias based on the organ system in which heme precursors (5-aminolevulinic acid (ALA), porphobilinogen and porphyrins) are chiefly overproduced. Read More

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http://dx.doi.org/10.3390/metabo4040977DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4279155PMC
November 2014
9 Reads

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

Ann Clin Biochem 2015 May 9;52(Pt 3):407-12. Epub 2014 Oct 9.

Department of Clinical Biochemistry, St James University Hospital, Leeds, UK.

Variegate porphyria is an autosomal dominant acute hepatic porphyria characterized by photosensitivity and acute neurovisceral attacks. Hepatocellular carcinoma has been described as a potential complication of variegate porphyria in case reports. We report a case of a 48-year-old woman who was diagnosed with hepatocellular carcinoma following a brief history of right upper quadrant pain which was preceded by a few months of blistering lesions in sun-exposed areas. Read More

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http://dx.doi.org/10.1177/0004563214557568DOI Listing
May 2015
16 Reads

Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium.

Am J Med 2014 Dec 10;127(12):1233-41. Epub 2014 Jul 10.

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

Background: Recent descriptions of the clinical and laboratory features of subjects with acute porphyrias in the US are lacking. Our aim was to describe clinical, biochemical, and genetic features of 108 subjects.

Methods: Between September 2010 and December 2012, 108 subjects with acute porphyrias (90 acute intermittent porphyrias, 9 hereditary coproporphyrias, 9 variegate porphyrias) were enrolled into an observational study. Read More

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http://dx.doi.org/10.1016/j.amjmed.2014.06.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4563803PMC
December 2014
14 Reads

Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).

JIMD Rep 2014 6;16:57-64. Epub 2014 Jul 6.

Clinic of Gastroenterology and Hepatology, University Hospital "Saint Ivan Rislki", Sofia, Bulgaria,

Acute intermittent porphyria (AIP), variegate porphyria (VP), and hereditary coproporphyria (HCP) are caused by mutations in the hydroxymethylbilane synthase (HMBS), protoporphyrinogen oxidase (PPOX), and coproporphyrinogen oxidase (CPOX) genes, respectively. This study aimed to identify mutations in seven Bulgarian families with AIP, six with VP, and one with HCP. A total of 33 subjects, both symptomatic (n = 21) and asymptomatic (n = 12), were included in this study. Read More

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http://dx.doi.org/10.1007/8904_2014_320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221299PMC
November 2014
27 Reads

Successful administration of sugammadex in a patient with acute porphyria: A case report.

Eur J Anaesthesiol 2014 Aug;31(8):439-41

From the Department of Anaesthesiology, Pain Management and ICU (EJB, JGFS) and Hospital Pharmacy of Gelre Hospital (JJWS), Gelre Hospital Apeldoorn, Apeldoorn, The Netherlands.

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http://dx.doi.org/10.1097/EJA.0000000000000045DOI Listing
August 2014
6 Reads

Mechanistic insights into the substrate recognition of PPO: toward the rational design of effective inhibitors.

Future Med Chem 2014 Apr;6(6):597-9

Key Laboratory of Pesticide & Chemical Biology of Ministry of Education, College of Chemistry, Central China Normal University, 152 Luoyu Road, Wuhan 430079, P.R. China.

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http://dx.doi.org/10.4155/fmc.14.29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367858PMC
April 2014
11 Reads

The cutaneous porphyrias.

Dermatol Clin 2014 Jul 5;32(3):369-84, ix. Epub 2014 May 5.

Department of Medical Biochemistry and Immunology, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK; Institute of Molecular and Experimental Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff, Wales CF14 4XN, UK.

The porphyrias are a group of mainly inherited disorders of heme biosynthesis where accumulation of porphyrins and/or porphyrin precursors gives rise to 2 types of clinical presentation: cutaneous photosensitivity and/or acute neurovisceral attacks. The cutaneous porphyrias present with either bullous skin fragility or nonbullous acute photosensitivity. This review discusses the epidemiology, pathogenesis, clinical presentation, laboratory diagnosis, complications, and current approach to porphyria management. Read More

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http://dx.doi.org/10.1016/j.det.2014.03.001DOI Listing
July 2014
12 Reads

A challenging diagnosis for potential fatal diseases: recommendations for diagnosing acute porphyrias.

Eur J Intern Med 2014 Jul 5;25(6):497-505. Epub 2014 May 5.

Centre for Porphyrias, Division of Internal Medicine II, Department of Medical and Surgical Science - University of Modena and Reggio Emilia, Policlinico Hospital, Modena, Italy.

Acute porphyrias are a heterogeneous group of metabolic disorders resulting from a variable catalytic defect of four enzymes out of the eight involved in the haem biosynthesis pathway; they are rare and mostly inherited diseases, but in some circumstances, the metabolic disturbance may be acquired. Many different environmental factors or pathological conditions (such as drugs, calorie restriction, hormones, infections, or alcohol abuse) often play a key role in triggering the clinical exacerbation (acute porphyric attack) of these diseases that may often mimic many other more common acute medical and neuropsychiatric conditions and whose delayed diagnosis and treatment may be fatal. In order to obtain an accurate diagnosis of acute porphyria, the knowledge and the use of appropriate diagnostic tools are mandatory, even in order to provide as soon as possible the more effective treatment and to prevent the use of potentially unsafe drugs, which can severely precipitate these diseases, especially in the presence of life-threatening symptoms. Read More

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http://dx.doi.org/10.1016/j.ejim.2014.03.011DOI Listing
July 2014
12 Reads