The porphyrias: advances in diagnosis and treatment

Slides:

Advertisements

Similar presentations

Porphyrias: a review and case report

Advertisements

Porphyrias and Errors In Heme Metabolism By: Maria Moreno, Jin-Hee Park, Seo Youn Kim and Newton Wong September 23, 2014 PHM142 Fall 2014 Instructor: Dr.

HEME SYNTHESIS Prof.Dr.Arzu SEVEN. HEME SYNTHESIS Heme is synthesized from porphyrins and iron. Porphyrins are cyclic compounds formed by the linkage.

Porphyrin Metabolism.

Molecular Biochemistry II

Iron and heme metabolism © Michael Palmer Functions of heme Redox chemistry ● electron transport: cytochromes in the respiratory chain ● enzyme.

TISSUES :- ALL TISSUES BUT PREDOMINANTLY IN THE LIVER AND BONE-MARROW SUBCELLULAR SITE :- PARTLY IN MITOCHONDRION ( FIRST STEP AND THE LAST THREE STEPS.

Pathophysiology of Heme Synthesis Beth A. Bouchard BIOC 212: Biochemistry of Human Disease Spring 2006.

NITROGEN BIOSYNTHETIC PATHWAYS BIOC 460 DR. TISCHLER LECTURE 39.

Conversion of Amino Acids to Specialized Products 1Dr. Nikhat Siddiqi.

Pathophysiology of Heme Synthesis Beth A. Bouchard BIOC 212: Biochemistry of Human Disease Spring 2005.

Disorders of Iron, Porphyrins and Hemoglobin MLAB 2401: Clinical Chemistry Keri Brophy-Martinez.

Disorders of Heme synthesis. HEME-CONTAINING PROTEINS  Hemoglobin  Myoglobin  Cytochromes  Catalase  Some peroxidases.

Chapter 16 Hemal Biochemistry The biochemistry and molecular biology department of CMU.

Figures: Lehninger-4ed; chapter: 22 (Stryer-5ed; chapter: 24)

Porphyrin metabolism & porphyrias

Porphyrins (Structure of Porphyrins) Objective: In addition to serving as building blocks for proteins, amino acids are precursor of many nitrogen-containing.

Gene therapy of a mouse model of congenital erythropoietic porphyria improved by a selective advantage of corrected red blood cells INSERM U876, Université.

HEME SYNTHESIS DR AMINA TARIQ BIOCHEMISTRY. HEME PROTEINS These are a group of specialized proteins that contain heme and globin. Heme is the prosthetic.

Queen Victoria, porphyria and hemophila Angie Lam Jenn Mann Maura Markowitz Jennie Zaborsky.

Porphyrin metabolism & porphyrias. What are porphyrins ? Porphyrins Porphyrins are cyclic compounds that bind metal ions (usually Fe2+ or Fe3+) Metaloporphyrin.

Porphyrins and Porphyrias Dr. Zeyad El-Akawi Jreisat, M.D, M.A, Ph.D.

PORPHYRIAS  A group of rare disorders caused by deficiencies of enzymes of the heme biosynthetic pathway  Affected individuals have an accumulation of.

Porphyrins & Bile Pigments. Objectives After studying this chapter, you should be able to: Know the relationship between porphyrins and heme Be familiar.

Overview The Sites of Heme Biosynthesis are: 1.The liver, which synthesizes a number of heme proteins (particularly cytochrome P450). 2.The bone marrow,

MLAB 2401: Clinical Chemistry Keri Brophy-Martinez

Vampires Among Us Reality in Fiction By: Blaque Smith.

Pityriasis (tinea) versicolor: A chronic, superficial fungal disease of the skin characterized by well-demarcated white, pink, fawn, or brownish lesions,

MLAB 2401: Clinical Chemistry Keri Brophy-Martinez

PORPHYRIAS DR AMINA TARIQ BIOCHEMISTRY. Group of disorders either inherited or acquired in the heme synthesis. Congenital erythropoietic porphyria- recessive.

Porphyrin metabolism & porphyrias

Uroporphyrinogen Decarboxylase (UROD)

Metabolism of tetrapyrrols Pavla Balínová. Tetrapyrrols circular compounds binding a metal ion (most frequently Fe 2+ and Fe 3+ ) consist of 4 pyrrol.

Porphyrins and bile pigments Alice Skoumalová. Heme structure:  a porphyrin ring coordinated with an atom of iron  side chains: methyl, vinyl, propionyl.

Lecturer in Biochemistry

HEME SYNTHESIS & DISORDERS

Porphyrias Porphyrias are disorders of haem synthesis. In cutaneous porphyria, unstable intermediates in the haem pathway build up in the skin where they.

Metabolismo del Heme. Figure 7.3: Comparison of myoglobin and hemoglobin. © Irving Geis.

PORPHYRIN METABOLISM JANE NYANDELE DEPT. OF BIOCHEMISTRY HKMU.

Iron and heme metabolism

The classification of porphyria

Keeping Your Youthful Confidence

Foundations For Healthy Eating

Prashant Joshi, MD PGY-6, Hematology-Oncology

by Robert F. Todd, Scott D. Gitlin, Linda J. Burns, and

Pakistan Society Of Chemical Pathologists Distance Learning Programme In Chemical Pathology (DLP-2) Lesson No 12 Porphyrias- “Made Easy” By Brig Aamir.

Extrahepatic Manifestations of HCV Infection

by Ian Napier, Prem Ponka, and Des R. Richardson

Porphyrins and bile pigment

Adverse effects of topical glucocorticosteroids

Structure, function and metabolism of hemoglobin

Prevention of Murine Erythropoietic Protoporphyria-Associated Skin Photosensitivity and Liver Disease by Dermal and Hepatic Ferrochelatase Robert Pawliuk,

Porphyrin and Heme Metabolism

Systemic Photodynamic Therapy with Aminolevulinic Acid Induces Apoptosis in Lesional T Lymphocytes of Psoriatic Plaques Robert Bissonnette, Dr., Jean-François.

Porphyrin metabolism & porphyrias

Dr. Shumaila Asim Lecture # 2

A new red cell shape helps the clot

Intermittent Unexplained Abdominal Pain: Is It Porphyria?

Lymphocutaneous syndrome due to Scedosporium apiospermum

Uroporphyrinogen III Synthase Knock-In Mice Have the Human Congenital Erythropoietic Porphyria Phenotype, Including the Characteristic Light-Induced.

Effective Gene Therapy of Mice with Congenital Erythropoietic Porphyria Is Facilitated by a Survival Advantage of Corrected Erythroid Cells Elodie Robert-Richard,

PGC-1α: Looking behind the Sweet Treat for Porphyria

Treatment versus Transplant for Challenging Hematologic Disorders

Dr. Shumaila Asim Lecture # 10

Influence of Light Exposure on the Kinetics of Protoporphyrin IX Formation in Normal Skin of Hairless Mice After Application of 5-Aminolevulinic Acid.

Pure red cell aplasia by Robert T. Means Blood

Porphyria and Errors in Heme Metabolism

Initial treatment of CLL: integrating biology and functional status

Prof. of Medical Biochemistry

Presentation transcript:

The porphyrias: advances in diagnosis and treatment by Manisha Balwani, and Robert J. Desnick Blood Volume 120(23):4496-4504 November 29, 2012 ©2012 by American Society of Hematology

The human heme biosynthetic pathway. The human heme biosynthetic pathway. The pathway consists of 8 enzymatic steps: 4 localized in mitochondria and 4 in the cytosol. Only the type III isomers of uroporphyrinogen and coproporphyrinogen are metabolized to heme. Heme is exported from mitochondria for incorporation into cellular hemoproteins and, particularly in liver, exerts feedback regulation on 5-aminolevulinic acid synthase (ALAS1). Manisha Balwani, and Robert J. Desnick Blood 2012;120:4496-4504 ©2012 by American Society of Hematology

Porphyria cutanea tarda. Porphyria cutanea tarda. (A-B) Sun-exposed hands of a PCT patient showing areas of atrophy and scarring. (C) Urine from a symptomatic PCT patient and a healthy control in daylight (left) and under ultraviolet light (right). The PCT urine has an orange-red color in daylight that fluoresces red under ultraviolet light. Manisha Balwani, and Robert J. Desnick Blood 2012;120:4496-4504 ©2012 by American Society of Hematology

Congenital erythropoietic porphyria. Congenital erythropoietic porphyria. (A) A severely affected CEP patient who has had multiple sun-induced skin lesions. The cutaneous bullae and vesicles burst and became secondarily infected, leading to bone involvement and resultant loss of facial features and digits. (B) Note his brownish discolored teeth, which fluoresce (erythrodontia) when exposed to ultraviolet light. The erythrodontia is the result of the accumulation of uroporphyrin I and coproporphyrin I in his teeth. (C) Urine from a CEP patient that fluoresces red under ultraviolet light (left) and from a healthy person (right). Manisha Balwani, and Robert J. Desnick Blood 2012;120:4496-4504 ©2012 by American Society of Hematology

Erythropoietic protoporphyria. Erythropoietic protoporphyria. (A) An EPP patient after sun exposure. Note the reddish and swollen appearance of her face and (B) scarring and thickening of the skin on the dorsum of her hand because of multiple sun/light exposures. Manisha Balwani, and Robert J. Desnick Blood 2012;120:4496-4504 ©2012 by American Society of Hematology