876 results match your criteria Congenital Erythropoietic Porphyria


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
5 Reads

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

Mol Genet Metab 2019 Jan 18. Epub 2019 Jan 18.

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

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

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http://dx.doi.org/10.1016/j.ymgme.2019.01.007DOI Listing
January 2019
2 Reads

[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
2 Reads

Congenital Erythropoietic Porphyria with Erythrodontia: A Case Report.

Int J Paediatr Dent 2019 Feb 1. Epub 2019 Feb 1.

Cukurova University, Faculty of Dentistry, Department of Pediatric Dentistry, 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
February 2019
1 Read

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

Authors:
Manisha Balwani

Mol Genet Metab 2019 Jan 24. 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
January 2019
2 Reads

Congenital erythropoietic porphyria: Recent advances.

Mol Genet Metab 2018 Dec 27. 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
December 2018
5 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
1 Read
4.508 Impact Factor

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

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

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

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

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

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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http://dx.doi.org/10.1016/j.ymgme.2018.11.013DOI Listing
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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https://linkinghub.elsevier.com/retrieve/pii/S10967192183048
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http://dx.doi.org/10.1016/j.ymgme.2018.08.015DOI Listing
August 2018
12 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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http://dx.doi.org/10.1016/j.jclinane.2018.10.010DOI Listing
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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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
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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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
11 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
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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http://dx.doi.org/10.1126/scitranslmed.aat7467DOI Listing
September 2018
10 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
3 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
1 Read

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
1 Read

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
3 Reads

Erythropoietic Protoporphyria: Initial Diagnosis With Cholestatic Liver Disease.

Pediatrics 2018 Apr;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
1 Read

[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
3 Reads

Porphyria: What Is It and Who Should Be Evaluated?

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

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

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

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

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
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http://dx.doi.org/10.3390/molecules23030575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6017824PMC
March 2018
2 Reads

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

Br J Dermatol 2018 May 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
3 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
12 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
9 Reads
3.025 Impact Factor

An overview of the cutaneous porphyrias.

Authors:
Robert Dawe

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

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

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

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

Perioperative Anesthetic Management of Patients Having Liver Transplantation for Uncommon Conditions.

Semin Cardiothorac Vasc Anesth 2018 Jun 18;22(2):197-210. Epub 2017 Sep 18.

1 Penn State Milton S Hershey Medical Center, Hershey, PA, USA.

This review focuses on the perioperative anesthetic management of patients having liver transplantation (LT) performed for several uncommon indications or in combination with rare pathology. Conditions discussed in the article include Alagille syndrome, hypertrophic cardiomyopathy, Gilbert's syndrome, porphyria, Wilson's disease, and Budd-Chiari syndrome. In comparison to other indications, LT in these settings is infrequent because of the low incidence of these pathologies. Read More

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http://dx.doi.org/10.1177/1089253217732129DOI Listing
June 2018
10 Reads

Neonatal hemolytic anemia does not always indicate thalassemia: a case report.

BMC Res Notes 2017 Sep 12;10(1):476. Epub 2017 Sep 12.

Department of Medicine, School of Medicine and Health Sciences, Sana'a University, Sana'a, Yemen.

Background: Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, cartilage and bone. Read More

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http://dx.doi.org/10.1186/s13104-017-2803-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596485PMC
September 2017
6 Reads

Mutation in human elevates levels of aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.

Proc Natl Acad Sci U S A 2017 09 5;114(38):E8045-E8052. Epub 2017 Sep 5.

Division of Hematology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA 02115;

Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic penetrance of the porphyrias is clinically variable, underscoring the role of additional causative, contributing, and modifier genes. We previously discovered that the mitochondrial AAA+ unfoldase ClpX promotes heme biosynthesis by activation of δ-aminolevulinate synthase (ALAS), which catalyzes the first step of heme synthesis. Read More

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http://dx.doi.org/10.1073/pnas.1700632114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5617249PMC
September 2017
27 Reads

Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations: a case report.

Br J Dermatol 2018 Aug 2;179(2):486-490. Epub 2018 Mar 2.

Department of Haematology, Hospital Clínic of Barcelona, University of Barcelona, Spain.

Congenital erythropoietic porphyria is a rare autosomal recessive disease caused by a deficiency of uroporphyrinogen III synthase, owing to mutations in UROS in chromosome 10. Occasionally, patients show a mild, late-onset disease, without germline UROS mutations, associated with haematological malignancies. We report a 65-year-old patient with photosensitivity, overexcretion of porphyrins and thrombocytopenia. Read More

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http://doi.wiley.com/10.1111/bjd.15927
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http://dx.doi.org/10.1111/bjd.15927DOI Listing
August 2018
6 Reads

Porphyria.

N Engl J Med 2017 Aug;377(9):862-872

From the Department of Medicine, Division of Gastroenterology and Porphyria Center, University of California, San Francisco, San Francisco (D.M.B.); the Departments of Preventive Medicine and Community Health and Internal Medicine, Division of Gastroenterology and Hepatology, University of Texas Medical Branch, Galveston (K.E.A.); and the Department of Gastroenterology, Wake Forest School of Medicine, Winston-Salem, NC (H.L.B.).

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http://dx.doi.org/10.1056/NEJMra1608634DOI Listing
August 2017
9 Reads

Osteoporosis in patients with erythropoietic protoporphyria.

Br J Dermatol 2017 12 22;177(6):1693-1698. Epub 2017 Nov 22.

Department of Internal Medicine, Porphyria Centre, Centre for Lysosomal and Metabolic Diseases, Erasmus MC, PO Box 2040, 3000, CA Rotterdam, the Netherlands.

Background: Erythropoietic protoporphyria (EPP) is a rare metabolic disease with painful photosensitivity due to protoporphyrin IX accumulation.

Objectives: To evaluate bone mineral density (BMD) and known osteoporosis risk factors in patients with EPP.

Methods: Patients with EPP attending the Erasmus MC outpatient clinic who had undergone BMD measurements were included. Read More

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http://dx.doi.org/10.1111/bjd.15893DOI Listing
December 2017
15 Reads

Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria.

JIMD Rep 2017 28;37:99-106. Epub 2017 Mar 28.

Department of Pediatrics, Okayama University Hospital, Shikatacho 2-5-1, Kita-ku, Okayama, 700-8558, Japan.

Genetic mutation of the coproporphyrinogen oxidase (CPOX) gene causes either hereditary coproporphyria (HCP) or harderoporphyria. HCP, a rare hepatic porphyria, causes acute attacks after puberty and rarely accompanies cutaneous symptoms. In contrast, harderoporphyria is an erythropoietic porphyria that represents photosensitivity and hemolytic anemia from the neonatal period. Read More

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http://dx.doi.org/10.1007/8904_2017_20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740044PMC
March 2017
9 Reads

Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.

Hum Mol Genet 2017 04;26(8):1565-1576

Université de Bordeaux.

Congenital erythropoietic porphyria (CEP) is an inborn error of heme biosynthesis characterized by uroporphyrinogen III synthase (UROS) deficiency resulting in deleterious porphyrin accumulation in blood cells responsible for hemolytic anemia and cutaneous photosensitivity. We analyzed here the molecular basis of UROS impairment associated with twenty nine UROS missense mutations actually described in CEP patients. Using a computational and biophysical joint approach we predicted that most disease-causing mutations would affect UROS folding and stability. Read More

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddx067DOI Listing
April 2017
4 Reads

Congenital erythropoietic porphyria (Gunther disease) - long-term follow up of a case and review.

Dermatol Online J 2017 Feb 15;23(2). Epub 2017 Feb 15.

St Vincent's Hospital, Melbourne, Victoria, Australia. matthew.david.

Patients with the rare genodermatosis congenitalerythropoietic porphyria (CEP, Gunther disease)develop erosions and scarring on sun-exposedsites caused by phototoxin mediated damage.Compromised skin barrier function places patientsat higher risk of infection and long term sequelaeinclude scarring. We report a long term follow up ofa 60 year old patient born with CEP and provide anextensive literature review of CEP including recentupdates on potential management options. Read More

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February 2017
6 Reads

Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity.

J Inherit Metab Dis 2017 05 9;40(3):433-441. Epub 2017 Feb 9.

Porphyria Centre San Gallicano Dermatological Institute IRCCS, Rome, Italy.

Patients with erythropoietic protoporphyria (EPP) have reduced activity of the enzyme ferrochelatase that catalyzes the insertion of iron into protoporphyrin IX (PPIX) to form heme. As the result of ferrochelatase deficiency, PPIX accumulates and causes severe photosensitivity. Among different patients, the concentration of PPIX varies considerably. Read More

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http://dx.doi.org/10.1007/s10545-017-0017-7DOI Listing
May 2017
17 Reads

Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model.

Haematologica 2017 02 10;102(2):260-270. Epub 2016 Nov 10.

INSERM U1149/ERL CNRS 8252, Centre de Recherche sur l'Inflammation Paris Montmartre, 75018 Paris, France

Hemolysis occurring in hematologic diseases is often associated with an iron loading anemia. This iron overload is the result of a massive outflow of hemoglobin into the bloodstream, but the mechanism of hemoglobin handling has not been fully elucidated. Here, in a congenital erythropoietic porphyria mouse model, we evaluate the impact of hemolysis and regenerative anemia on hepcidin synthesis and iron metabolism. Read More

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http://dx.doi.org/10.3324/haematol.2016.151621DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5286934PMC
February 2017
13 Reads

Acute hepatic and erythropoietic porphyrias: from ALA synthases 1 and 2 to new molecular bases and treatments.

Curr Opin Hematol 2017 May;24(3):198-207

aINSERM U1149 CNRS ERL 8252, Centre de Recherche sur l'inflammation, Université Paris Diderot, site Bichat, Sorbonne Paris Cité bLaboratory of excellence, GR-Ex, Paris cAP-HP, Centre Français des Porphyries, Hôpital Louis Mourier, Colombes dAP-HP, Hôpital Beaujon, Service de Biochimie Clinique, Clichy, France.

Purpose Of Review: Many studies over the past decade have together identified new genes including modifier genes and new regulation and pathophysiological mechanisms in inherited inborn diseases of the heme biosynthetic pathway. A new porphyria has been characterized: X-linked protoporphyria and the perspective to have innovative treatment at very short-term became a reality. We will summarize how recent data on both ALAS1 and ALAS2 have informed our understanding of disease pathogenesis with an emphasis on how this information may contribute to new therapeutic strategies. Read More

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http://Insights.ovid.com/crossref?an=00062752-201705000-0000
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http://dx.doi.org/10.1097/MOH.0000000000000330DOI Listing
May 2017
11 Reads

Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.

Dis Model Mech 2017 03 12;10(3):225-233. Epub 2017 Jan 12.

Institute of Laboratory Medicine, Municipal Hospital Triemli, Zürich 8063, Switzerland

Erythropoietic protoporphyria (EPP) is caused by deficiency of ferrochelatase (FECH), which incorporates iron into protoporphyrin IX (PPIX) to form heme. Excitation of accumulated PPIX by light generates oxygen radicals that evoke excessive pain and, after longer light exposure, cause ulcerations in exposed skin areas of individuals with EPP. Moreover, ∼5% of the patients develop a liver dysfunction as a result of PPIX accumulation. Read More

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http://dx.doi.org/10.1242/dmm.027755DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5374324PMC
March 2017
11 Reads

Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer.

Clin Genet 2017 Nov 2;92(5):495-502. Epub 2017 Aug 2.

Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon.

Erythropoietic protoporphyria (EPP) is a rare cutaneous and systemic disease caused by mutations in the ferrochelatase gene (FECH). The molecular underpinnings of EPP in Middle Eastern populations and relative to other ethnic groups secondary to increased consanguinity are unknown. To understand the molecular pathogenesis of Middle Eastern EPP, we surveyed clinicopathological and molecular features in 6 large consanguineous families from Lebanon and Syria presenting with cutaneous and systemic features consistent with EPP. Read More

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http://dx.doi.org/10.1111/cge.12968DOI Listing
November 2017
2 Reads

Pharmacokinetics and Pharmacodynamics of Afamelanotide and its Clinical Use in Treating Dermatologic Disorders.

Clin Pharmacokinet 2017 08;56(8):815-823

Stadtspital Triemli, Institute of Laboratory Medicine, Zurich, Switzerland.

Afamelanotide, the first α-melanocyte-stimulating hormone (MSH) analogue, synthesized in 1980, was broadly investigated in all aspects of pigmentation because its activity and stability were higher than the natural hormone. Afamelanotide binds to the melanocortin-1 receptor (MC1R), and MC1R signaling increases melanin synthesis, induces antioxidant activities, enhances DNA repair processes and modulates inflammation. The loss-of-function variants of the MC1R present in fair-skinned Caucasians are less effectively activated by the natural hormone. Read More

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http://dx.doi.org/10.1007/s40262-016-0501-5DOI Listing
August 2017
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Advances in the management of erythropoietic protoporphyria - role of afamelanotide.

Appl Clin Genet 2016 12;9:179-189. Epub 2016 Dec 12.

Department of Internal Medicine, Section on Gastroenterology.

Erythropoietic protoporphyria (EPP) and the phenotypically similar disease X-linked protoporphyria (XLPP) are inherited cutaneous porphyrias characterized clinically by acute non-blistering photosensitivity, intolerance to sunlight, and significantly reduced quality of life. They are due to marked overproduction of protoporphyrin (PP) chiefly by erythroblasts and reticulocytes. In EPP, the underlying genetic defect is in the ferrochelatase gene, which encodes the final enzyme in the heme synthetic pathway. Read More

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http://dx.doi.org/10.2147/TACG.S122030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5161401PMC
December 2016
14 Reads

A promising new strategy for monitoring erythropoietic protoporphyria therapy.

Authors:
V A McGuire

Br J Dermatol 2016 Dec;175(6):1144-1145

Scottish Cutaneous Porphyria Service, Photobiology Unit, Level 8, Ninewells Hospital, Dundee, DD1 9SY, U.K.

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http://doi.wiley.com/10.1111/bjd.15142
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http://dx.doi.org/10.1111/bjd.15142DOI Listing
December 2016
2 Reads

Photodermatoses: Kids are not just little people.

Clin Dermatol 2016 Nov - Dec;34(6):724-735. Epub 2016 Jul 12.

University of Connecticut School of Medicine, Department of Dermatology, Farmington, CT.

Photodermatoses are a group of skin disorders caused by abnormal reaction to ultraviolet radiation. Photodermatoses are divided into four groups: (1) immunologically mediated photodermatoses; (2) chemical- and drug-induced photodermatoses; (3) photoaggravated dermatoses; and (4) hereditary photodermatoses. This contribution discusses differences in the approach and diagnosis of pediatric and adult patients with suspected photodermatoses, focusing on immunologically mediated photodermatoses and chemical- and drug-induced photodermatoses. Read More

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http://dx.doi.org/10.1016/j.clindermatol.2016.07.007DOI Listing
June 2017
11 Reads

Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence.

Clin Exp Dermatol 2016 Dec;41(8):953-954

St John's Institute of Dermatology, Guy's and St Thomas' NHS Trust, London, UK.

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http://dx.doi.org/10.1111/ced.12932DOI Listing
December 2016
4 Reads

Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients.

Biochim Biophys Acta Mol Basis Dis 2017 02 10;1863(2):428-439. Epub 2016 Nov 10.

Department of Molecular Medicine, Morsani College of Medicine, University of South Florida, Tampa, FL, USA; Department of Chemistry, University of South Florida, Tampa, FL, USA. Electronic address:

Mutations in the C-terminus of human erythroid 5-aminolevulinate synthase (hALAS2), a pyridoxal 5'-phosphate (PLP)-dependent enzyme, are associated with two different blood disorders, X-linked sideroblastic anemia (XLSA) and X-linked protoporphyria (XLPP). XLSA-causing mutations yield hALAS2 variants with decreased activity, while XLPP-causing mutations result in a gain-of-function of hALAS2. There are no specific treatments for XLPP. Read More

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http://dx.doi.org/10.1016/j.bbadis.2016.11.011DOI Listing
February 2017
7 Reads

Case Report of Patient With Erythropoietic Protoporphyria and Basal Cell Carcinoma Diagnoses.

J Cutan Med Surg 2017 May/Jun;21(3):258-260. Epub 2016 Nov 12.

2 Department of Internal Medicine, College of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada.

Background: Basal cell carcinoma (BCC) is the most common nonmelanoma skin cancer. There is a clear association between BCC development and ultraviolet (UV) radiation. Erythropoietic protoporphyria (EPP) is an inherited porphyria disorder that is a result of protoporphyrin accumulation, typically manifesting with phototoxicity. Read More

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http://dx.doi.org/10.1177/1203475416679825DOI Listing
May 2018
7 Reads