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    381 results match your criteria Variegate Porphyria

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    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

    Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.
    Endocrine 2018 Mar 7. 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

    An overview of the cutaneous porphyrias.
    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

    Acute hepatic porphyria and cancer risk: a nationwide cohort study.
    J Intern Med 2017 Sep 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

    The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.
    Ann Intern Med 2017 Jun 27. 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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    [Neurocutaneous porphyrias].
    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

    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

    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

    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

    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

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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    Liver transplantation in the management of porphyria.
    Hepatology 2014 Sep 29;60(3):1082-9. Epub 2014 Jul 29.
    Division of Gastroenterology and Hepatology, University of Alabama (UAB), Birmingham, AL.
    Unlabelled: Porphyrias are a group of eight metabolic disorders, each resulting from a mutation that affects an enzyme of the heme biosynthetic pathway. Porphyrias are classified as hepatic or erythropoietic, depending upon the site where the gene defect is predominantly expressed. Clinical phenotypes are classified as follows: (1) acute porphyrias with neurovisceral symptoms: acute intermittent porphyria; delta amino-levulinic acid hydratase deficiency porphyria; hereditary coproporphyria; and variegate porphyria and (2) cutaneous porphyrias with skin blistering and photosensitivity: porphyria cutanea tarda; congenital erythropoietic porphyria; hepatoerythropoietic porphyria and both erythropoietic protoporphyrias: autosomal dominant and X-linked. Read More

    Porphyria and its neurologic manifestations.
    Handb Clin Neurol 2014 ;120:839-49
    Mayo Clinic, Department of Neurology, Rochester, MN, USA. Electronic address:
    Porphyrias are rare disorders resulting from a defect in the heme biosynthetic pathway. They can produce significant disease of both the peripheral and central nervous systems, in addition to other organ systems, with acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria as the subtypes associated with neurologic manifestations. The presence of a motor-predominant peripheral neuropathy (axonal predominant), accompanied by gastrointestinal distress and neuropsychiatric manifestations, should be a strong clue to the diagnosis of porphyria. Read More

    Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology.
    Int J Dermatol 2013 Dec;52(12):1464-80
    Department of Dermatology, Baylor University Medical Center, Dallas, TX, USA.
    The porphyrias are a group of disorders characterized by defects in the heme biosynthesis pathway. Many present with skin findings including photosensitivity, bullae, hypertrichosis, and scarring. Systemic symptoms may include abdominal pain, neuropsychiatric changes, anemia, and liver disease. Read More

    Variegate porphyria complicated by systemic AA amyloidosis: a case report.
    Amyloid 2013 Dec 16;20(4):272-4. Epub 2013 Oct 16.
    Nephrology Center, Toranomon Hospital , Tokyo , Japan .
    We report a Japanese woman with variegate porphyria accompanied by amyloid A (AA) amyloidosis. Arthropathy involving multiple joints occurred at 35 years old and persisted. C-reactive protein was 4. Read More

    Homozygous variegate porphyria presenting with developmental and language delay in childhood.
    Clin Exp Dermatol 2013 Oct;38(7):737-40
    St John's Institute of Dermatology, Evelina Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
    Variegate porphyria is an autosomal dominant disorder that usually presents with photosensitivity and acute neurological crises in adulthood. It is caused by heterozygous mutations in the protoporphyrinogen oxidase gene (PPOX). A rarer variant, homozygous variegate porphyria (HVP), presents in childhood with recurrent skin blisters and scarring. Read More

    Computer-based diagnosis of illness in historical persons.
    J R Coll Physicians Edinb 2013 ;43(2):161-8
    Iron Lock Cottage, Beeston Brook, Tiverton, Tarporley, Cheshire CW6 9NH, UK.
    Retrospective diagnosis of illness in historical figures is a popular but somewhat unreliable pastime due to the lack of detailed information and reliable reports about clinical features and disease progression. Modern computer-based diagnostic programmes have been used to supplement historical documents and accounts, offering new and more objective approaches to the retrospective investigations of the medical conditions of historical persons. In the case of King George III, modern technology has been used to strengthen the findings of previous reports rejecting the popular diagnosis of variegate porphyria in the King, his grandson Augustus d'Esté and his antecedent King James VI and I. Read More

    Role of genetic testing in the management of patients with inherited porphyria and their families.
    Ann Clin Biochem 2013 May;50(Pt 3):204-16
    Department of Medical Biochemistry and Immunology, University Hospital of Wales and Institute of Molecular and Experimental Medicine, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK.
    The porphyrias are a group of mainly inherited metabolic conditions that result from partial deficiency of individual enzymes in the haem biosynthesis pathway. Clinical presentation is either with acute neurovisceral attacks, skin photosensitivity or both, and is due to overproduction of pathway intermediates. The primary diagnosis in the proband is based on biochemical testing of appropriate samples, preferably during or soon after onset of symptoms. Read More

    Best practice guidelines on clinical management of acute attacks of porphyria and their complications.
    Ann Clin Biochem 2013 May;50(Pt 3):217-23
    Department of Medicine, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
    The British and Irish Porphyria Network guidelines describe best practice in the clinical assessment, investigation and management of acute porphyria attacks and their complications, including severe attacks with neuropathy. Acute attacks of porphyria may occur in acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP). Aminolaevulinic acid dehydratase deficiency porphyria (ADP) is a very rare autosomal recessive porphyria; only six cases substantiated by mutation analysis have yet been described in the literature. Read More

    Antioxidants restore protoporphyrinogen oxidase in variegate porphyria patients.
    Eur J Clin Invest 2013 Jul 20;43(7):668-78. Epub 2013 Apr 20.
    Laboratori de Ciències de l'Activitat Física, Departament de Biologia Fonamental i Ciències de la Salut, Grup de Nutrició Comunitaria i Estrés Oxidatiu, IUNICS, Universitat de les Illes Balears, Palma de Mallorca, Spain.
    Background: Variegate porphyria (VP) is the result of decreased protoporphyrinogen oxidase (PPOX) activity and results in the accumulation of porphyrins and porphyrin precursors. Our aims were to analyse the basal antioxidant defences and oxidative damage markers and the effects of a diet supplementation with vitamins E and C on the oxidant/antioxidant status and PPOX gene expression in lymphocytes of variegate porphyria (VP) patients.

    Materials And Methods: Twelve women affected by VP and 12 control women participated in a randomized and double-blind crossover study. Read More

    Diagnosing the dead: the retrospective analysis of genetic diseases.
    J R Coll Physicians Edinb 2013 ;43(1):11-4
    The suspected presence of hereditary disease in important historical and political figures has interested researchers for many decades. Whether Abraham Lincoln suffered from Marfan syndrome, if George III became 'mad' because he inherited variegate porphyria, and if the Romanov dynasty collapsed because the heir Alexei inherited haemophilia are important questions; physical illness can adversely affect the ability of leaders to function within the social and political realm of their day. This article will outline an approach to such a medical-historical analysis including assessment of hereditary predisposition, family history and the use of DNA technology to confirm or deny the clinical suspicions of the investigator. Read More

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