900 results match your criteria Congenital Erythropoietic Porphyria


Association of Afamelanotide With Improved Outcomes in Patients With Erythropoietic Protoporphyria in Clinical Practice.

JAMA Dermatol 2020 Mar 18. Epub 2020 Mar 18.

Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.

Importance: The effectiveness of afamelanotide treatment in patients with erythropoietic protoporphyria (EPP) in clinical practice who experience pain after light exposure that substantially impairs quality of life is unknown.

Objective: To evaluate the association of afamelanotide treatment with outcomes in patients with EPP in regular practice during longer-term follow-up.

Design, Setting, And Participants: This single-center, prospective postauthorization safety and efficacy cohort study was directed and approved by the European Medicines Agency. Read More

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http://dx.doi.org/10.1001/jamadermatol.2020.0352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7081144PMC

Mild iron deficiency does not ameliorate the phenotype of a murine erythropoietic protoporphyria model.

Am J Hematol 2020 05 7;95(5):492-496. Epub 2020 Feb 7.

Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.

Reduced ferrochelatase activity in erythropoietic protoporphyria (EPP) causes the accumulation of protoporphyrin IX (PPIX) leading to acute cutaneous photosensitivity and liver injury. Many EPP patients also have a mild hypochromic, microcytic anemia and iron deficiency. Iron deficiency can lead to decreased PPIX accumulation in another erythropoietic porphyria, congenital erythropoietic porphyria (CEP). Read More

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http://dx.doi.org/10.1002/ajh.25743DOI Listing

Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction.

Biol Blood Marrow Transplant 2020 Apr 14;26(4):704-711. Epub 2019 Dec 14.

Pediatric Immuno-Hematology and Rheumatology Unit, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, AP-HP, Paris, France.

Congenital erythropoietic porphyria (CEP) is a rare disease characterized by erosive photosensitivity and chronic hemolysis due to a defect of the enzyme uroporphyrinogen-III-synthase (UROS). To date, hematopoietic stem cell transplantation (HSCT) is the only curative therapy for the devastating early and severe form of the disease. We describe 6 patients with CEP treated with HSCT (3 of them twice after failure of a first graft) between 1994 and 2016 in our center, including 2 of the very first living patients treated more than 20 years ago. Read More

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http://dx.doi.org/10.1016/j.bbmt.2019.12.005DOI Listing

Patients with porphyria bask in sunlight of FDA approval.

Authors:
Mark Ratner

Nat Biotechnol 2019 12;37(12):1390-1391

, Tequesta, FL, USA.

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http://dx.doi.org/10.1038/s41587-019-0347-0DOI Listing
December 2019

Phototherapy in the Evaluation and Management of Photodermatoses.

Dermatol Clin 2020 Jan 18;38(1):71-77. Epub 2019 Oct 18.

Department of Dermatology, Henry Ford Health System, 3031 West Grand Boulevard, Suite 800, Detroit, MI 48202, USA. Electronic address:

Ultraviolet light (UV) and visible light are important components in the diagnosis of photodermatoses, and UV has the unique ability to also be used to manage photodermatoses. Phototesting, provocative light testing, and photopatch testing can provide important information in diagnosing patients with photodermatoses; phototesting can be used to determine the starting dose for phototherapy in these patients. Once photosensitivity is established, narrowband UVB and UVA1 therapy have helped to improve the quality of life of photosensitive patients, such as those with polymorphous light eruption, chronic actinic dermatitis, and solar urticaria. Read More

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http://dx.doi.org/10.1016/j.det.2019.08.007DOI Listing
January 2020

Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria.

JIMD Rep 2019 Nov 14;50(1):9-19. Epub 2019 Sep 14.

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

Background: Erythropoietic protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare photodermatoses presenting with severe phototoxicity. Although anecdotally, providers who treat EPP patients acknowledge their life-altering effects, tools that fully capture their impact on quality of life (QoL) are lacking.

Methods: Adult patients with EPP/XLP were given four validated QoL tools: the Patient Reported Outcomes Measurement Information System 57 (PROMIS-57), the Hospital Anxiety and Depression Scale (HADS), the Illness Perception Questionnaire Revised (IPQR), and an EPP-Specific tool. Read More

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http://dx.doi.org/10.1002/jmd2.12052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850979PMC
November 2019

Genetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria).

Biochem Biophys Res Commun 2019 12 7;520(2):297-303. Epub 2019 Oct 7.

Laboratory of excellence, GR-Ex, Paris, France; INSERM U1035, Biothérapie des Maladies Génétiques, Inflammatoires et Cancers, France; Université de Bordeaux, 33000, Bordeaux, France. Electronic address:

Clinical severity is heterogeneous among patients suffering from congenital erythropoietic porphyria (CEP) suggesting a modulation of the disease (UROS deficiency) by environmental factors and modifier genes. A KI model of CEP due to a missense mutation of UROS gene present in human has been developed on 3 congenic mouse strains (BALB/c, C57BL/6, and 129/Sv) in order to study the impact of genetic background on disease severity. To detect putative modifiers of disease expression in congenic mice, hematologic data, iron parameters, porphyrin content and tissue samples were collected. Read More

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http://dx.doi.org/10.1016/j.bbrc.2019.09.141DOI Listing
December 2019
1 Read

The essential role of the transporter ABCG2 in the pathophysiology of erythropoietic protoporphyria.

Sci Adv 2019 09 18;5(9):eaaw6127. Epub 2019 Sep 18.

Center for Pharmacogenetics, Department of Pharmaceutical Sciences, School of Pharmacy, University of Pittsburgh, Pittsburgh, PA 15261, USA.

Erythropoietic protoporphyria (EPP) is an inherited disease caused by loss-of-function mutations of ferrochelatase, an enzyme in the heme biosynthesis pathway that converts protoporphyrin IX (PPIX) into heme. PPIX accumulation in patients with EPP leads to phototoxicity and hepatotoxicity, and there is no cure. Here, we demonstrated that the PPIX efflux transporter ABCG2 (also called BCRP) determines EPP-associated phototoxicity and hepatotoxicity. Read More

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http://dx.doi.org/10.1126/sciadv.aaw6127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6750912PMC
September 2019
2 Reads

Ocular manifestations in patient with congenital erythropoietic porphyria.

Indian J Ophthalmol 2019 10;67(10):1765-1768

Department of Ophthalmology, Miguel Servet University Hospital; GIMSO Research and Innovative Group, Aragon Institute for Health Research (IIS Aragón), University of Zaragoza, Zaragoza, Spain.

We present the case of a 52-year-old woman referred to our service because of extreme ocular surface dryness. The patient showed corneal, conjunctival, and eyelid manifestations of ocular congenital erythropoietic porphyria (CEP). We started treatment with autologous serum, topical steroids, and cyclosporine twice a day, topical retinoids, and intense corneal lubrication. Read More

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http://dx.doi.org/10.4103/ijo.IJO_1776_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6786212PMC
October 2019

Management of Patients With Erythropoietic Protoporphyria-Related Progressive Liver Disease.

Liver Transpl 2019 11 30;25(11):1620-1633. Epub 2019 Sep 30.

Department of Gastroenterology and Liver Transplant, Austin Hospital, Melbourne, Australia.

Erythropoietic protoporphyria (EPP) is an inherited metabolic disorder of heme synthesis resulting from overproduction of protoporphyrin IX (PPIX), which can lead to progressive liver disease characterized by recurrent EPP crises and end-stage liver disease. We used the Australian Transplant Registry to identify 5 patients referred for liver transplantation between 2008 and 2017. A total of 4 patients had EPP secondary to ferrochelatase deficiency, and 1 patient had X-linked EPP. Read More

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http://dx.doi.org/10.1002/lt.25632DOI Listing
November 2019
3 Reads

Letter to the editor: Diagnosis of erythropoietic protoporphyria with severe liver injury - a case report.

World J Gastroenterol 2019 08;25(30):4292-4293

Porphyria Center Rotterdam, Center for lysosomal and metabolic disease, Department of Internal Medicine, Erasmus University Medical Center, Rotterdam 3015 GD, Netherlands.

Erythropoietic protoporphyria (EPP) is an extremely rare disease which is often unrecognized as diagnosis. In the recent article Lui et al describe a patient with a new diagnosis of EPP with severe liver injury. Approximately 5%-20% of patients with EPP develop liver manifestations. Read More

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http://dx.doi.org/10.3748/wjg.v25.i30.4292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6700695PMC
August 2019
4 Reads
2.369 Impact Factor

Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria.

Mol Genet Metab 2019 11 31;128(3):309-313. Epub 2019 Jul 31.

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

Erythropoietic protoporphyria (EPP), the most common porphyria of childhood and the third most common porphyria of adulthood, is characterized clinically by painful, non-blistering cutaneous photosensitivity. Two distinct inheritance patterns involving mutations affecting genes that encode enzymes of the heme biosynthetic pathway underlie the clinical phenotype. Aminolevulinic acid synthase 2 (ALAS2), the rate limiting enzyme of the heme pathway in the erythron, is a therapeutic target in EPP because inhibiting enzyme function would reduce downstream production of protoporphyrin IX (PPIX), preventing accumulation of the toxic molecule and thereby ameliorating symptoms. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183057
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http://dx.doi.org/10.1016/j.ymgme.2019.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6911826PMC
November 2019
5 Reads

Acquired erythropoietic protoporphyria: A systematic review of the literature.

Photodermatol Photoimmunol Photomed 2020 Jan 21;36(1):29-33. Epub 2019 Aug 21.

Photodermatosis Clinic, Department of Dermatology, Rabin Medical Center, Petach Tikva, Israel.

Background: Erythropoietic protoporphyria (EPP) is a semi-dominantly inherited porphyria presenting with photosensitivity during early childhood. Acquired EPP has been reported; however, data regarding this rare disorder are scarce.

Purpose: To evaluate the characteristics of acquired EPP. Read More

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http://dx.doi.org/10.1111/phpp.12501DOI Listing
January 2020
4 Reads

Do We Utilize Our Knowledge of the Skin Protective Effects of Carotenoids Enough?

Antioxidants (Basel) 2019 Jul 31;8(8). Epub 2019 Jul 31.

School of Medicine, University of Zagreb, Šalata 3, 10 000 Zagreb, Croatia.

Due to their potential health-promoting effects, carotenoids have drawn both scientific and public attention in recent years. The primary source of carotenoids in the human skin is diet, mainly fruits, vegetables, and marine product, but they may originate from supplementation and topical application, too. In the skin, they accumulate mostly in the epidermis and act as a protective barrier to various environmental influences. Read More

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http://dx.doi.org/10.3390/antiox8080259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6719967PMC
July 2019
4 Reads

Heme biosynthesis and the porphyrias.

Authors:
John D Phillips

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

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

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

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http://dx.doi.org/10.1016/j.ymgme.2019.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7252266PMC
November 2019
7 Reads

Characterization of a novel pathogenic variant in the gene associated with erythropoietic protoporphyria.

Mol Genet Metab Rep 2019 Sep 25;20:100481. Epub 2019 Jun 25.

PreventionGenetics, Marshfield, WI, USA.

Erythropoietic protoporphyria (EPP) is an autosomal recessive deficiency in heme biosynthesis due to pathogenic variants in the ferrochelatase gene (). Patients present with lifelong photosensitivity and potential liver disease. Here we report a novel variant designated c. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2019.100481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6599883PMC
September 2019
4 Reads

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

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

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

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

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

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http://dx.doi.org/10.1111/jdv.15769DOI Listing
January 2020
10 Reads

Congenital Erythropoietic Porphyria: A Rare Case of Photosensitivity with Hemolytic Anaemia and Mental Retardation.

J Coll Physicians Surg Pak 2019 Jun;29(6):S23-S25

Department of General Medicine, Himalayan Institute of Medical Sciences, Swami Rama Himalayan University, Jolly Grant, Dehradun, Uttarakhand, India.

Congenital erythropoietic porphyria, also called Gunther's disease, is a very rare genetic autosomal recessive diseaseaffecting less than 1 per 1,000,000 children. Pathogenesis involves genetic mutation encoding uroporphyrinogen-III cosynthase which leads to accumulation of porphyrin in many tissues, leading to extreme skin photosensitivity, red cell lysis, splenomegaly and reduced life expectancy. Herein, we report a 12-year mentally challenged girl with multiple blisters and scars on sun exposed sites since birth. Read More

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http://dx.doi.org/10.29271/jcpsp.2019.06.S23DOI Listing
June 2019
8 Reads

Clinical Guide and Update on Porphyrias.

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

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

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

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http://dx.doi.org/10.1053/j.gastro.2019.04.050DOI Listing
August 2019
14 Reads

CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations.

Nat Commun 2019 03 8;10(1):1136. Epub 2019 Mar 8.

Univ. Bordeaux, 33000, Bordeaux, France.

CRISPR-Cas9 is a promising technology for genome editing. Here we use Cas9 nuclease-induced double-strand break DNA (DSB) at the UROS locus to model and correct congenital erythropoietic porphyria. We demonstrate that homology-directed repair is rare compared with NHEJ pathway leading to on-target indels and causing unwanted dysfunctional protein. Read More

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http://dx.doi.org/10.1038/s41467-019-09006-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408493PMC
March 2019
14 Reads

Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report.

World J Gastroenterol 2019 Feb;25(7):880-887

Department of Infectious Diseases, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing 400038, China.

Background: Porphyria is a rare disease with complex classification. Erythropoietic protoporphyria (EPP) is an autosomal recessively inherited disease, and most are caused by mutations in the gene. EPP combined with liver injury is even rarer. Read More

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http://dx.doi.org/10.3748/wjg.v25.i7.880DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385011PMC
February 2019
27 Reads

Feasibility of cellular bioenergetics as a biomarker in porphyria patients.

Mol Genet Metab Rep 2019 Jun 29;19:100451. Epub 2019 Jan 29.

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

Porphyria is a group of metabolic disorders due to altered enzyme activities within the heme biosynthetic pathway. It is a systemic disease with multiple potential contributions to mitochondrial dysfunction and oxidative stress. Recently, it has become possible to measure mitochondrial function from cells isolated from peripheral blood (cellular bioenergetics) using the XF96 analyzer (). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22144269183014
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http://dx.doi.org/10.1016/j.ymgmr.2019.100451DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355507PMC
June 2019
40 Reads

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

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

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

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

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http://dx.doi.org/10.1016/j.ymgme.2019.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639143PMC
November 2019
16 Reads

[The cutaneous porphyrias].

Authors:
J-F Cuny

Ann Dermatol Venereol 2019 Feb 30;146(2):143-159. Epub 2019 Jan 30.

Service de dermatologie, CHR Metz-Thionville, 1, allée du Château, CS 45001, 57085 Metz cedex 03, France. Electronic address:

The porphyrias are a group of metabolic disorders resulting from an innate abnormality in haem biosynthesis, and the clinical settings of which vary according to the genetic enzyme abnormality in question. These are genetic disorders with autosomal dominant or recessive inheritance of varying penetrance, and whose clinical expression differs according to the preferential location of haem precursors. Different classifications have been proposed according to genetic inheritance, the enzyme anomaly at issue, and clinical expression. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01519638183134
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http://dx.doi.org/10.1016/j.annder.2018.12.005DOI Listing
February 2019
17 Reads

Congenital erythropoietic porphyria with erythrodontia: A case report.

Int J Paediatr Dent 2019 Jul 27;29(4):542-548. Epub 2019 Feb 27.

Department of Pediatric Dentistry, Faculty of Dentistry, Cukurova University, Adana, Turkey.

Background: The causes for intrinsic tooth discoloration can be separated into two categories as systemic and local. Systemic causes are either genetic or drug-induced effects. The development of dentition can also be affected by a number of systemic factors and metabolic diseases such as porphyria. Read More

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http://dx.doi.org/10.1111/ipd.12473DOI Listing
July 2019
12 Reads

Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.

Authors:
Manisha Balwani

Mol Genet Metab 2019 11 24;128(3):298-303. Epub 2019 Jan 24.

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

Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare, genetic photodermatoses resulting from defects in enzymes of the heme-biosynthetic pathway. EPP results from the partial deficiency of ferrochelatase, and XLP results from gain-of-function mutations in erythroid specific ALAS2. Both disorders result in the accumulation of erythrocyte protoporphyrin, which is released in the plasma and taken up by the liver and vascular endothelium. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183064
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http://dx.doi.org/10.1016/j.ymgme.2019.01.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6656624PMC
November 2019
11 Reads

Congenital erythropoietic porphyria: Recent advances.

Mol Genet Metab 2019 11 27;128(3):288-297. Epub 2018 Dec 27.

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

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder characterized by photosensitivity and by hematologic abnormalities in affected individuals. CEP is caused by mutations in the uroporphyrinogen synthase (UROS) gene. In three reported cases, CEP has been associated with a specific X-linked GATA1 mutation. Read More

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http://dx.doi.org/10.1016/j.ymgme.2018.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6597325PMC
November 2019
37 Reads

Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants.

Mol Med 2019 01 24;25(1). Epub 2019 Jan 24.

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

Background: X-linked protoporphyria (XLP) (MIM 300752) is an erythropoietic porphyria due to gain-of-function mutations in the last exon (Ducamp et al., Hum Mol Genet 22:1280-88, 2013) of the erythroid-specific aminolevulinate synthase gene (ALAS2). Five ALAS2 exon 11 variants identified by the NHBLI Exome sequencing project (p. Read More

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http://dx.doi.org/10.1186/s10020-019-0070-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344999PMC
January 2019
13 Reads
4.508 Impact Factor

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

Mol Genet Metab 2019 11 30;128(3):320-331. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542720PMC
November 2019
19 Reads

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

Mol Genet Metab 2019 11 28;128(3):363-366. 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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http://dx.doi.org/10.1016/j.ymgme.2018.11.013DOI Listing
November 2019
20 Reads

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

Mol Genet Metab 2019 11 31;128(3):358-362. 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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https://linkinghub.elsevier.com/retrieve/pii/S10967192183048
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http://dx.doi.org/10.1016/j.ymgme.2018.08.015DOI Listing
November 2019
28 Reads

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

Mol Genet Metab 2019 11 22;128(3):391-395. 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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https://linkinghub.elsevier.com/retrieve/pii/S10967192183058
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http://dx.doi.org/10.1016/j.ymgme.2018.10.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7328821PMC
November 2019
7 Reads

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

J Clin Anesth 2019 May 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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http://dx.doi.org/10.1016/j.jclinane.2018.10.010DOI Listing
May 2019
13 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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http://link.springer.com/10.1007/s00108-018-0509-z
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http://dx.doi.org/10.1007/s00108-018-0509-zDOI Listing
December 2018
57 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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https://www.tandfonline.com/doi/full/10.1080/00325481.2018.1
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http://dx.doi.org/10.1080/00325481.2018.1533380DOI Listing
November 2018
19 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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http://dx.doi.org/10.4103/ijo.IJO_513_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6173006PMC
October 2018
5 Reads
0.927 Impact Factor

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

Sci Transl Med 2018 09;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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http://dx.doi.org/10.1126/scitranslmed.aat7467DOI Listing
September 2018
54 Reads

Acquired erythropoietic uroporphyria and myelodysplastic syndrome cured by bone marrow transplantation.

Authors:
H de Verneuil

Br J Dermatol 2018 08;179(2):256-257

INSERM U1035, University of Bordeaux, 146 rue Léo Saignat, 33076, Bordeaux cedex, France.

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http://dx.doi.org/10.1111/bjd.16345DOI Listing
August 2018
8 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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http://dx.doi.org/10.1016/j.htct.2018.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001922PMC
March 2018
12 Reads

Diagnostic Delay in Erythropoietic Protoporphyria.

J Pediatr 2018 11 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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http://dx.doi.org/10.1016/j.jpeds.2018.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203604PMC
November 2018
9 Reads

Delayed photosensitivity in a child with erythropoietic protoporphyria : a case report.

SAGE Open Med Case Rep 2018 23;6:2050313X18772125. Epub 2018 May 23.

Dalhousie University, Halifax Regional Municipality, Canada.

Erythropoietic protoporphyria (EPP) is a genetically inherited disease that causes protoporphyrin accumulation in erythrocytes, skin, liver, bile, and stool. Clinically this manifests as photosensitivity with painful, edematous cutaneous porphyria. We present the case of a four-year-old boy with a delayed photosensitivity reaction to sunlight. Read More

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http://dx.doi.org/10.1177/2050313X18772125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5971381PMC
May 2018
8 Reads

Brain perfusion defects by SPET/CT and neurostat semi-quantitative analysis in two patients with congenital erythropoietic porphyria.

Hell J Nucl Med 2018 Jan-Apr;21(1):43-47

Nuclear Medicine, IRCCS "Casa Sollievo della Sofferenza", San Giovanni Rotondo, Foggia, Italy.

Background: Congenital erythropoietic porphyria (CEP) is a rare autosomal recessively inherited disorder with chronic and relatively stable presentation. Till now brain blood flow derangements have been described only in acute hepatic porphyrias. We describe the first findings of brain perfusion defects, studied by single photon emission tomography/computed tomography (SPET/CT), in two patients affected by CEP, by using a semi-quantification anatomic-standardized voxel-based program compared with magnetic resonance imaging (MRI) results. Read More

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June 2018
32 Reads

Erythropoietic Protoporphyria: Initial Diagnosis With Cholestatic Liver Disease.

Pediatrics 2018 04;141(Suppl 5):S445-S450

Departments of Pathology and Immunology and

The porphyrias are a group of rare metabolic disorders that result from defects in heme biosynthesis. Erythropoietic protoporphyria (EPP) is the most common inherited porphyria in children and is diagnosed in most individuals after the onset of cutaneous manifestations. Hepatobiliary disease affects the minority of individuals with EPP and usually manifests in patients with an established diagnosis of EPP. Read More

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http://dx.doi.org/10.1542/peds.2016-1625DOI Listing
April 2018
10 Reads

[Congenital erythropoietic porphyria: case report and management recommendations].

Arch Argent Pediatr 2018 Apr;116(2):e300-e302

División de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile.

Congenital erythropoietic porphyria is an extremely rare, autosomal recessive, non-acute cutaneous porphyria, caused by uroporphyrinogen III synthase deficiency, codificated by UROS gene on the chromosome 10q26.2. Porphyrins deposit in cornea, bones and teeth. Read More

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http://dx.doi.org/10.5546/aap.2018.e300DOI Listing
April 2018
9 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
17 Reads

Effects of the Usage of l-Cysteine (l-Cys) on Human Health.

Molecules 2018 Mar 3;23(3). Epub 2018 Mar 3.

Biochemistry and Molecular Biology Division, Department of Agrochemistry and Biochemistry, Faculty of Science, University of Alicante, 03690 San Vicente del Raspeig, Spain.

This review summarizes recent knowledge about the use of the amino acid l-Cysteine (l-Cys) through diet, nutritional supplements or drugs with the aim to improve human health or treat certain diseases. Three databases (PubMed, Scopus, and Web of Science) and different keywords have been used to create a database of documents published between 1950 and 2017 in scientific journals in English or Spanish. A total of 60,885 primary publications were ultimately selected to compile accurate information about the use of l-Cys in medicine and nutritional therapies and to identify the reported benefits of l-Cys on human health. Read More

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http://www.mdpi.com/1420-3049/23/3/575
Publisher Site
http://dx.doi.org/10.3390/molecules23030575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6017824PMC
March 2018
6 Reads

Hair cortisol is elevated in patients with erythropoietic protoporphyria and correlates with body mass index and quality of life.

Br J Dermatol 2018 05 6;178(5):1209-1210. Epub 2018 Apr 6.

Porphyria Center, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1111/bjd.16341DOI Listing
May 2018
8 Reads

Prevention of photosensitivity with action spectrum adjusted protection for erythropoietic protoporphyria.

J Dermatol 2018 Feb 20;45(2):145-149. Epub 2017 Dec 20.

Department of Dermatology, Kindai University Faculty of Medicine, Osaka, Japan.

Erythropoietic protoporphyria is a genetic disease characterized by sensitivity to sunlight caused by the accumulation of protoporphyrin IX. Photoprotection against ultraviolet A and visible light is necessary for erythropoietic porphyria patients because the absorption spectrum of protoporphyrin IX lies in both ultraviolet A and visible light region. We developed a novel index, in vitro porphyrin protection factor, based on the protoporphyrin IX absorbance spectrum. Read More

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http://dx.doi.org/10.1111/1346-8138.14175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814858PMC
February 2018
19 Reads

Acquired Transverse Stripes on the Fingernails: A Quiz.

Acta Derm Venereol 2018 Mar;98(3):386-387

Department of Dermatology, CHRU Tours, FR-37044 Tours, France.

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http://dx.doi.org/10.2340/00015555-2850DOI Listing
March 2018
16 Reads
3.025 Impact Factor