10,252 results match your criteria Porphyria Cutanea Tarda


The first Japanese case of familial porphyria cutanea tarda diagnosed by a UROD mutation.

J Dermatol Sci 2018 Nov 15. Epub 2018 Nov 15.

Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan. Electronic address:

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November 2018

[Porphyria cutanea tarda. Case report].

Rev Med Chil 2018 Aug;146(8):943-946

Escuela de Medicina, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.

Porphyria cutanea tarda (PCT) is the most common type of porphyria: it is characterized by blistering lesions, erosions and crusts on the back of the hands, associated with photosensitivity and facial hypertrichosis. It is produced by acquired or hereditary deficiency of the enzyme UROD, fifth enzyme in the chain of production of the Heme group. This causes accumulation of porphyrins in the liver, which are subsequently mobilized to the skin, where lesions are generated by photosensitivity. Read More

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Use HFR-supra for porphyria cutanea tarda treatment in hemodialysis patient.

Nefrologia 2018 Dec 7. Epub 2018 Dec 7.

Servicio de Nefrología, Centro de Hemodiálisis AVERICUM SL Negrín, Las Palmas de Gran Canaria, Las Palmas, España.

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December 2018

Systemic Administered mRNA as Therapy for Metabolic Diseases.

Trends Mol Med 2018 Dec 6. Epub 2018 Dec 6.

UMRs 1149, Centre de Recherche sur l'Inflammation, Institut National de la Santé et de la Recherche Médicale, Université Paris Diderot, 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, 75015 Paris, France. Electronic address:

The potential of mRNA to produce therapeutic and protective protein levels is a promising approach for the treatment of a large number of diseases. In a recent study published in Nature Medicine (Published online October 8, 2018. doi. Read More

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December 2018

Improvement of porphyria cutanea tarda following treatment of hepatitis C virus by direct-acting antivirals: A case report.

J Dermatol 2018 Dec 3. Epub 2018 Dec 3.

Department of Dermatology, Shinshu University School of Medicine, Nagano, Japan.

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December 2018
1 Read

Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.

Mol Genet Metab 2018 Nov 28. Epub 2018 Nov 28.

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

Porphyria Cutanea Tarda (PCT) is a cutaneous porphyria that results from the hepatic inhibition of the heme biosynthetic enzyme uroporphyrinogen decarboxylase (UROD), and can occur either in the absence or presence of an inherited heterozygous UROD mutation (PCT subtypes 1 and 2, respectively). A heterozygous UROD mutation causes half-normal levels of UROD activity systemically, which is a susceptibility factor but is not sufficient alone to cause type 2 PCT. In both Types 1 and 2 PCT, the cutaneous manifestations are precipitated by additional factors that lead to generation of an inhibitor that more profoundly reduces hepatic UROD activity. Read More

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November 2018
2 Reads

Provisional standardization of hepcidin assays: creating a traceability chain with a primary reference material, candidate reference method and a commutable secondary reference material.

Clin Chem Lab Med 2018 Nov 29. Epub 2018 Nov 29.

Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.

Background Hepcidin concentrations measured by various methods differ considerably, complicating interpretation. Here, a previously identified plasma-based candidate secondary reference material (csRM) was modified into a serum-based two-leveled sRM. We validated its functionality to increase the equivalence between methods for international standardization. Read More

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November 2018
1 Read

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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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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November 2018
1 Read

[Porphyria - when to think about how to clarify and treat?]

Ther Umsch 2018 Nov;75(4):225-233

1 Schweizerisches Versorgungsnetzwerk für Porphyrie c / o Stadtspital Triemli, Abteilung für Endokrinologie, Diabetologie und Porphyrie, Zürich.

Porphyria - when to think about how to clarify and treat? Abstract. Porphyrias are a group of metabolic disorders that are mostly hereditary. They manifest either as abdominal colic or as skin changes at light-exposed areas. Read More

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November 2018
3 Reads

Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.

Mol Genet Metab 2018 Aug 31. Epub 2018 Aug 31.

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

The erythropoietic porphyrias are inborn errors of heme biosynthesis with prominent cutaneous manifestations. They include autosomal recessive Congenital Erythropoietic Porphyria (CEP) due to loss-of-function (LOF) mutations in the Uroporphyrinogen III Synthase (UROS) gene, Erythropoietic Protoporphyria (EPP) due to LOF mutations in the ferrochelatase (FECH) gene, and X-Linked Protoporphyria (XLP) due to gain-of-function mutations in the terminal exon of the Aminolevulinic Acid Synthase 2 (ALAS2) gene. During the 11-year period from 01/01/2007 through 12/31/2017, the Mount Sinai Porphyrias Diagnostic Laboratory provided molecular diagnostic testing for one or more of these disorders in 628 individuals, including 413 unrelated individuals. Read More

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August 2018
6 Reads

Epidemiology of Alcohol Consumption and Societal Burden of Alcoholism and Alcoholic Liver Disease.

Clin Liver Dis 2019 Feb;23(1):39-50

Division of Gastroenterology and Hepatology, Porphyria Center, University of Alabama at Birmingham, 1720 2nd Avenue South, BDB 380, Birmingham, AL 35294, USA. Electronic address:

Alcohol abuse is a major determinant of public health outcomes. Worldwide data from 2016 indicate that alcohol is the seventh leading risk factor in terms of disability-adjusted life years, an increase of more than 25% from 1990 to 2016. Understanding the epidemiology of alcoholic liver disease, including the regional variations in consumption and public policy, is an area of active research. Read More

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February 2019
2 Reads

Blisters on the sun-exposed area: as a clue for underlying hepatitis C virus infection.

Postgrad Med J 2018 Nov 16. Epub 2018 Nov 16.

Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

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November 2018
4 Reads

Does Schizoaffective Disorder explain the mental illnesses of Robert Schumann and Vincent Van Gogh?

Psychiatr Danub 2018 Nov;30(Suppl 7):559-562

Clare College Cambridge, University of Cambridge, Trinity Lane, Cambridge, CB2 1TL, UK,

The geniuses Robert Schumann and Vincent Van Gogh show striking similarities both in the longitudinal nature of the progression of their illnesses, and the symptoms they experienced. There have been physiological explanations posed for both men, including Meniere's disease, tertiary syphilis, acute intermittent porphyria, terpenoid and lead poisoning, intracranial masses, temporal lobe epilepsy and dementia caused by vascular hypertension. The evidence for these physiological explanations is assessed. Read More

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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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October 2018
7 Reads
2.625 Impact Factor

Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria.

Mol Genet Metab 2018 Oct 22. Epub 2018 Oct 22.

Department of Medicine, Division of Gastroenterology and Hepatology, University of Alabama at Birmingham, Birmingham, AL, United States.

Accumulation of protoporphyrin IX (PPIX) and Zn-PPIX, are the clinical hallmarks of protoporphyria. Phenotypic expression of protoporphyria is due to decreased activity of ferrochelatase (FECH) or to increased activity of aminolevulinic acid synthase (ALAS) in red blood cells. Other genetic defects have been shown to contribute to disease severity including loss of function mutations in the mitochondrial AAA-ATPase, CLPX and mutations in the Iron-responsive element binding protein 2 (IRP2), in mice. Read More

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October 2018
5 Reads

Systematic review of the biological variation data for diabetes related analytes.

Clin Chim Acta 2019 Jan 31;488:61-67. Epub 2018 Oct 31.

Norwegian Porphyria Centre, Laboratory of Clinical Biochemistry, Haukeland University Hospital, Bergen, Norway; Norwegian Quality Improvement of Laboratory Examinations (NOKLUS), Haraldsplass Deaconess Hospital, Bergen, Norway; Department of Global Health and Primary Care, Faculty of Medicine and Dentistry, University of Bergen, Bergen, Norway.

Background: Objective interpretation of laboratory test results used to diagnose and monitor diabetes mellitus in part requires the application of biological variation data (BVD). The quality of published BVD has been questioned. The aim of this study was to quality assess publications reporting BVD for diabetes-related analytes using the Biological Variation Data Critical Appraisal Checklist (BIVAC); to assess whether published BVD are fit for purpose and whether the study design and population attributes influence BVD estimates and to undertake a meta-analysis of the BVD from BIVAC-assessed publications. Read More

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January 2019
3 Reads

Anaesthetic concerns in the patients with congenital erythropoietic porphyria for ocular surgery.

J Clin Anesth 2018 Oct 26;54:3-5. Epub 2018 Oct 26.

Dept. of Anaesthesiology, Pain Medicine and Critical care, All India Institute of Medical Sciences, New Delhi, India.

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October 2018

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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October 2018
7 Reads

Multinodular fatty change in the liver in three patients with chronic hepatic porphyria: Contribution of sonography to the diagnosis.

J Clin Ultrasound 2018 Oct 30. Epub 2018 Oct 30.

Department of Clinical Laboratory, Akita Kousei Medical Hospital, Akita, Japan.

We present three cases of chronic hepatic porphyria (CHP) in alcoholic patients, in which grayscale ultrasound (US) revealed multiple echogenic masses in the liver, mimicking multinodular hepatocellular carcinoma on alcoholic liver injury. In all cases, contrast-enhanced US (CEUS) showed iso-enhancement of the mass lesions throughout all vascular phases. Additionally, two-dimensional shear wave elastography (2DSWE) (performed in two cases) revealed the mass to have almost the same SWE value as the surrounding parenchyma. Read More

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October 2018
2 Reads

[Porphyrias-what is verified?]

Internist (Berl) 2018 Dec;59(12):1239-1248

MVZ Labor PD Dr. Volkmann und Kollegen GbR, 76133, Karlsruhe, Deutschland.

Porphyrias are caused by enzyme defects of heme biosynthesis. According to their clinical presentation and to each affected pathway, they are categorized into acute and non-acute as well as hepatic and erythropoietic porphyrias. Acute hepatic porphyrias, e. Read More

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December 2018
7 Reads

Porphyria Attack Manifesting as Delayed Emergence and Precipitated by Prolonged Cardiopulmonary Bypass: A Case Report of 2 Novel Observations.

A A Pract 2018 Oct 11. Epub 2018 Oct 11.

Critical Care, Mayo Clinic, Jacksonville, Florida.

Acute porphyria is a group of rare disorders in the biosynthesis pathway of heme that can result in severe neurovisceral attacks leading to morbidity and mortality. Perioperative complications have been largely prevented due to avoidance of precipitants and early treatment of symptoms. However, these measures may not always be successful, because not all physiological stressors can be evaded. Read More

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October 2018
6 Reads

Systemic messenger RNA as an etiological treatment for acute intermittent porphyria.

Nat Med 2018 Dec 8;24(12):1899-1909. Epub 2018 Oct 8.

Instituto de Investigación Sanitaria de Navarra (IdiSNA), Pamplona, Spain.

Acute intermittent porphyria (AIP) results from haploinsufficiency of porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthesis pathway. Patients with AIP have neurovisceral attacks associated with increased hepatic heme demand. Phenobarbital-challenged mice with AIP recapitulate the biochemical and clinical characteristics of patients with AIP, including hepatic overproduction of the potentially neurotoxic porphyrin precursors. Read More

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December 2018
19 Reads

Porphyrias and photosensitivity: pathophysiology for the clinician.

Postgrad Med 2018 Nov 23;130(8):673-686. Epub 2018 Oct 23.

a Department of Internal Medicine , Nicosia General Hospital, University of Cyprus Medical School , Nicosia , Cyprus.

Porphyrias are disorders caused by defects in the biosynthetic pathway of heme. Their manifestations can be divided into three distinct syndromes, each attributable to the accumulation of three distinct classes of molecules. The acute neurovisceral syndrome is caused by the accumulation of the neurotoxic porphyrin precursors, delta aminolevulinic acid, and porphobilinogen; the syndrome of immediate painful photosensitivity is caused by the lipid-soluble protoporphyrin IX and, the syndrome of delayed blistering photosensitivity, caused by the water-soluble porphyrins, uroporphyrin, and coproporphyrin. Read More

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November 2018
7 Reads

Loss of hepatocyte β-catenin protects mice from experimental porphyria-associated liver injury.

J Hepatol 2018 Oct 1. Epub 2018 Oct 1.

Department of Pathology, University of Pittsburgh, Pittsburgh, PA, United States; Pittsburgh Liver Research Center, Pittsburgh, PA, United States. Electronic address:

Background & Aims: Porphyrias result from anomalies of heme biosynthetic enzymes and can lead to cirrhosis and hepatocellular cancer. In mice, these diseases can be modeled by administration of a diet containing 3,5-diethoxycarbonyl-1,4-dihydrocollidine (DDC), which causes accumulation of porphyrin intermediates, resulting in hepatobiliary injury. Wnt/β-catenin signaling has been shown to be a modulatable target in models of biliary injury; thus, we investigated its role in DDC-driven injury. Read More

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October 2018
6 Reads

Psychiatric Disorders Secondary to Neurometabolic Disorders.

Rev Colomb Psiquiatr 2018 Oct - Dec;47(4):244-251. Epub 2017 Jun 17.

Service Universitaire de Psychiatrie de l'Enfant et de l'Adolescent, Université de Nantes, Nantes, Francia.

Some diseases secondary to inborn errors of metabolism are associated with psychiatric disorders or minor neurological symptoms. The existence of some cases with exclusively psychiatric symptoms represents a diagnostic and therapeutic challenge. The aim of this article is to describe seven treatable neurometabolic disorders that should be taken into account in the psychiatric consultation as they manifest with psychiatric symptoms that mask the organic origin of the disorder. Read More

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June 2017
2 Reads

Scleritis in congenital erythropoietic porphyria - infective or inflammatory?

Indian J Ophthalmol 2018 Oct;66(10):1467-1468

Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

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October 2018
1 Read

Acute Intermittent Porphyria: A Rare Cause of Acute Disseminated Encephalomyelitis.

Cureus 2018 Jul 17;10(7):e2989. Epub 2018 Jul 17.

Internal Medicine, Shifa College Of Medicine, Islamabad, PAK.

Acute disseminated encephalomyelitis (ADEM) is a demyelinating disease of the central nervous system (CNS) with no distinct etiology but implications include infections and commonly administered vaccinations. In this case report, we present the case of ADEM in a young female who was subsequently diagnosed with acute intermittent porphyria (AIP) that was the instigator of the initial CNS assault. Our case highlights the peculiar presentation of ADEM which can present as a diagnostic challenge and brings forth AIP as a new and previously unknown affiliate of this rare CNS disease. Read More

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July 2018
1 Read

Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria.

Sci Transl Med 2018 Sep;10(459)

Protein Stability and Inherited Disease Laboratory, CIC bioGUNE, 48160 Derio, Spain.

Congenital erythropoietic porphyria is a rare autosomal recessive disease produced by deficient activity of uroporphyrinogen III synthase, the fourth enzyme in the heme biosynthetic pathway. The disease affects many organs, can be life-threatening, and currently lacks curative treatments. Inherited mutations most commonly reduce the enzyme's stability, altering its homeostasis and ultimately blunting intracellular heme production. Read More

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September 2018
2 Reads

Non-familial porphyria cutanea tarda: a case report of a rare disease.

G Ital Dermatol Venereol 2018 Sep 18. Epub 2018 Sep 18.

Dermatology, University of Rome Tor Vergata, Rome, Italy.

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September 2018
1 Read

Effect of 5-aminolevulinic acid on the expression of carcinogenesis-related proteins in cultured primary hepatocytes.

Mol Biol Rep 2018 Sep 14. Epub 2018 Sep 14.

Laboratory of Molecular Biology, Butantan Institute, Av. Vital Brasil, 1500, Butantã, São Paulo, SP, 05503-900, Brazil.

Acute intermittent porphyria (AIP) is a heme pathway disorder caused by a decrease in the activity and synthesis of porphobilinogen deaminase. Thus, the first heme precursor 5-aminolevulinic acid (ALA) accumulates in the liver. Reactive oxygen species (ROS) resulting from ALA oxidation may be correlated to a higher incidence of hepatocellular carcinoma (HCC) in AIP patients. Read More

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September 2018
2 Reads

A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report.

Medicine (Baltimore) 2018 Sep;97(37):e12295

Shanxi Medical University.

Rationale: Acute intermittent porphyria (AIP) is caused by hydroxymethylbilane synthase (HMBS) gene mutation.

Patient Concerns: A Chinese female patient with very typical AIP symptoms of severe abdominal pain, seizures, hypertension, and tachycardia, accompanied with hyponatremia, anemia, and hyperbilirubinemia.

Diagnoses: She was diagnosed as AIP based on positive result of urine porphobilinogen and her clinical syndrome. Read More

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September 2018
2 Reads

Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP).

Mol Genet Metab 2018 Nov 5;125(3):295-301. Epub 2018 Sep 5.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, U.O.C. Medicina Generale, Milano, Italy. Electronic address:

Genetic variants in promoters and alternative-splicing lesions require to be experimentally tested in order to validate them as causatives of a disease. The digital PCR (dPCR) approach, which is an alternative to the classical qPCR, is an innovative and a more sensitive method for the detection and quantification of nucleic acids. In the present study, we identified four HMBS gene mutations affecting the ubiquitous isoform of porphobilinogen deaminase (PBGD) and established a dPCR protocol which would be able to detect the different transcripts of this gene. Read More

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November 2018
8 Reads

Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome: Two case reports and a literature review.

Medicine (Baltimore) 2018 Sep;97(36):e11665

Urology Department, Qilu Hospital of Shandong University, Qingdao, Shandong Province, China.

Introduction: Acute intermittent porphyria (AIP) is a rare and challenging hereditary neurovisceral disease with no specific symptoms. Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological syndrome with bilateral reversible posterior gyriform lesions that can be associated with many different conditions, including AIP. Usually, peripheral neuropathy is considered the most common neurological manifestation of AIP. Read More

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September 2018
8 Reads

Direct Immunofluorescence of Mechanobullous Epidermolysis Bullosa Acquisita, Porphyria Cutanea Tarda and Pseudoporphyria.

Acta Derm Venereol 2018 Sep 3. Epub 2018 Sep 3.

Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, Hanzeplein 1, NL-9700 RB Groningen, The Netherlands.

Mechanobullous epidermolysis bullosa acquisita (mEBA) can have a clinical presentation that is very similar to other blistering diseases, such as porphyria cutanea tarda (PCT) and pseudoporphyria. Direct immunofluorescence is an important feature in the diagnosis of mEBA, although features that overlap with PCT and pseudoporphyria have been reported. This retrospective observational study investigated whether direct immunofluorescence can discriminate mEBA from PCT and pseudoporphyria. Read More

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September 2018
2 Reads

Erythropoietic Protoporphyria-related Hepatopathy Successfully Treated with Phlebotomy.

Intern Med 2018 1;57(17):2505-2509. Epub 2018 Sep 1.

Department of Gastroenterology and Hepatology, Kindai University Faculty of Medicine, Japan.

A 27-year-old man bearing an erythropoietic protoporphyria (EPP)-associated ferrochelatase (FECH) mutation was admitted to our hospital for general malaise and marked elevation of the serum levels of hepatobiliary enzymes and bilirubin. Initial treatment with plasma exchange did not reduce the blood protoporphyrin or serum liver enzyme levels, so phlebotomy was started. Surprisingly, weekly phlebotomy normalized the serum levels of liver enzymes, accompanied by a marked reduction in the blood protoporphyrin levels. Read More

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November 2018
1 Read

IL-33 regulates cytokine production and neutrophil recruitment via the p38 MAPK-activated kinases MK2/3.

Immunol Cell Biol 2018 Sep 1. Epub 2018 Sep 1.

Division of Cell Signalling and Immunology, School of Life Sciences, Wellcome Trust Building, University of Dundee, Dow St, Dundee, DD1 5EH, UK.

IL-33 is an IL-1-related cytokine that can act as an alarmin when released from necrotic cells. Once released, it can target various immune cells including mast cells, innate lymphoid cells and T cells to elicit a Th2-like immune response. We show here that bone marrow-derived mast cells produce IL-13, IL-6, TNF, GM-CSF, CCL3 and CCL4 in response to IL-33 stimulation. Read More

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September 2018
11 Reads

Shedding light on recent advances in our understanding of cutaneous porphyrias.

Br J Dermatol 2018 Jul;179(1):1-2

Medical Biochemistry, University Hospital of Wales and School of Medicine, Cardiff University, Cardiff, U.K.

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July 2018
1 Read

Acute Intermittent Porphyria Presented with Acute Intestinal Pseudo-obstruction.

Indian J Endocrinol Metab 2018 Jul-Aug;22(4):573-574

Department of Medicine, Dr. S. N. Medical College, Jodhpur, Rajasthan, India.

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August 2018
11 Reads

Porphyria Cutanea Tarda Improvement With Elbasvir/Grazoprevir in End-Stage Renal Disease.

Clin Gastroenterol Hepatol 2018 Aug 9. Epub 2018 Aug 9.

University of Arizona, College of Medicine Phoenix, Phoenix, Arizona; Transplant and Advanced Liver Disease Center, Banner University Medical Center, Phoenix, Arizona.

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August 2018
8 Reads

A new UROD mutation in childhood porphyria cutanea tarda after allogeneic stem cell transplantation for β-thalassemia major.

Pediatr Blood Cancer 2018 Dec 9;65(12):e27391. Epub 2018 Aug 9.

Department of Pediatric Hematology and Oncology, University Hospital Würzburg, Würzburg, Germany.

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December 2018
8 Reads

The association between chemical-induced porphyria and hepatic cancer.

Toxicol Res (Camb) 2018 Jul 1;7(4):647-663. Epub 2018 Jun 1.

ToxPath Sciences Ltd , 1 Troutbeck Avenue , Congleton , Cheshire , CW12 4JA , UK.

The haem biosynthetic pathway is of fundamental importance for cellular metabolism both for the erythroid and nonerythroid tissues. There are several genetic variants of the pathway in the human population that cause dysfunction of one or other of the enzymes resulting in porphyrias of varying severity. Serious chronic hepatic and systemic diseases may result. Read More

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July 2018
10 Reads

Bioengineered PBGD variant improves the therapeutic index of gene therapy vectors for acute intermittent porphyria.

Hum Mol Genet 2018 Nov;27(21):3688-3696

Hepatology Program, CIMA-University of Navarra, Spain.

A first-in-human gene therapy trial using a recombinant adeno-associated viral (rAAV) vector for acute intermittent porphyria (AIP) reveals that higher doses would be required to reach therapeutic levels of the porphobilinogen deaminase (PBGD) transgene. We developed a hyperfunctional PBGD protein to improve the therapeutic index without increasing vector dose. A consensus protein sequence from 12 mammal species was compared to the human PBGD sequence, and eight amino acids were selected. Read More

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November 2018
2 Reads

When Intuition Invites the Analytical Mind to Dance-The Essential Role of Creativity in Science.

Epidemiology 2018 11;29(6):753-755

Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.

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November 2018

Many pitfalls in diagnosis of acute intermittent porphyria: a case report.

BMC Res Notes 2018 Aug 2;11(1):552. Epub 2018 Aug 2.

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

Background: Acute intermittent porphyria is a rare autosomal dominant disorder caused by a deficiency of the enzyme, hydroxymethylbilane synthase. Recognition of acute neurovisceral attacks can be difficult due to the nonspecific nature of symptoms.

Case Presentation: We report a case of 33-year-old male patient who presented with recurrent episodes of severe abdominal pain, nausea, vomiting, constipation and numbness of bilateral lower limb extremities. Read More

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August 2018
2 Reads

Demographics, Clinical Features, and Mortality of Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients.

JIMD Rep 2018 Aug 2. Epub 2018 Aug 2.

Institute of Medical Research, Universidad de Antioquia, Medellín, Colombia.

Background: There is minimal information available about acute hepatic porphyrias (AHPs) in developing countries. The aim of this study was to describe the demographics, clinical features, and mortality of AHPs in Colombia.

Patients And Methods: 121 patients with presumed diagnosis of AHPs were reported in Colombia between 1944 and 2018. Read More

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August 2018
2 Reads

The role of ClpX in erythropoietic protoporphyria.

Hematol Transfus Cell Ther 2018 Apr-Jun;40(2):182-188. Epub 2018 Mar 28.

Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.

Hemoglobin is an essential biological component of human physiology and its production in red blood cells relies upon proper biosynthesis of heme and globin protein. Disruption in the synthesis of these precursors accounts for a number of human blood disorders found in patients. Mutations in genes encoding heme biosynthesis enzymes are associated with a broad class of metabolic disorders called porphyrias. Read More

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March 2018
2 Reads

Correction to: Medical and financial burden of acute intermittent porphyria.

J Inherit Metab Dis 2018 Jul 27. Epub 2018 Jul 27.

Porphyria Center, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus Medical Center, PO Box 2040, 3000, CA, Rotterdam, the Netherlands.

Due to a typesetting error the wrong figure 2 was used. Read More

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July 2018
1 Read
3.370 Impact Factor

Diagnostic Delay in Erythropoietic Protoporphyria.

J Pediatr 2018 Nov 2;202:320-323.e2. Epub 2018 Jul 2.

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

Erythropoietic protoporphyria is a photodermatosis presenting in childhood with severe pain on sun exposure. The diagnosis is often delayed because of the lack of awareness among pediatricians. We describe the diagnostic odyssey of 2 children presenting with symptoms of erythropoietic protoporphyria and report results of a survey of 129 affected individuals. Read More

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November 2018
1 Read