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

Slides:

Advertisements

Similar presentations

RED BLOOD CELL DESTRUCTION. A, 1,3,5,8 ALA, protoporphinogen, mito Oroporphinogen, coproporphinogen cytoplasm׀׀׀ Mitoch anemia.

Advertisements

Krista Chau Walter Gao Sarah Son Kin Wong PHM142 Fall 2014 Instructor: Dr. Jeffrey Henderson.

OVERVIEW OF AMINO ACID METABOLISM ENVIRONMENT ORGANISM Ingested protein Bio- synthesis Protein AMINO ACIDS Nitrogen Carbon skeletons Urea Degradation (required)

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.

Dental Biochemistry Lectures 39 and HEME AND HEMOGLOBIN Michael Lea.

Molecular Biochemistry II

Bilirubin Metabolism & Jaundice

Degradation of heme 1Dr. nikhat Siddiqi. After approximately 120 days in the circulation, red blood cells are taken up and degraded by the reticuloendothelial.

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

Metabolism of heme and iron

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.

Heme Degradation & Hyperbilirubinemias

Heme Degradation & Hyperbilirubinemias Beth A. Bouchard BIOC 212: Biochemistry of Human Disease Spring 2005.

David Hart Dec 13, HEME CH 3 - Bonkovsky ASH Education Book December 2005.

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.

275 BCH Miss Tahani Al-Shehri

Quantitative Determination of Total and Direct Bilirubin in Serum Dept.of Biochemistry.

Estimation of serum bilirubin (total and direct)

Dr Gihan Gawish. Liver - Anatomy and Physiology Largest organ in the body Three basic functions Metabolic Secretory Vascular Major function Excretion.

Chapter 15 Bilirubin and Urobilinogen

Dissociable cofactors Prosthetic groups Cofactors And then there are: Metal cofactors What reactions do they do?

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.

Bilirubin Production Eric Niederhoffer SIU-SOM Heme (250 to 400 mg/day) Heme oxygenase Biliverdin reductase Hemoglobin (70 to 80%) Erythroid cellsHeme.

The Biochemistry of Jaundice  A collaborative effort of Group 3 Section 1C2  Members:  Animations by: Gerald Fuentes.

Porphyrin metabolism & porphyrias

Clinical Approach to Neonatal Jaundice

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

Jaundice Dr. Gehan Mohamed Dr. Abdelaty Shawky.

Metabolism of heme Alice Skoumalová. Heme structure:  a porphyrin ring coordinated with an atom of iron  side chains: methyl, vinyl, propionyl Heme.

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

1- Porphyrins are cyclic compounds formed by the linkage of 4 pyrrole rings through methenyl bridges (-CH=). 2- Porphyrins differ from each other in the.

HEME DEGRADATION AND JAUNDICE xiaoli Molecular Biochemistry II.

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.

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,

1- Porphyrins are cyclic compounds formed by the linkage of 4 pyrrole rings through methenyl bridges (-CH=). 2- Porphyrins differ from each other in the.

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

Porphyrin metabolism & porphyrias

Dr Vivek Joshi, MD. Heme catabolism  Commonly occurs in liver and spleen  Done by reticuloendothelial cells  Most of the heme for degradation comes.

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

JAUNDICE Definition:- Jaundice refers to the yellow appearance of the skin, sclerae and mucous membranes resulting from an increased bilirubin concentration.

Liver Function Tests (LFTs) Measurement of Serum Bilirubin (Total, direct &indirect) T.A. Bahiya Osrah.

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

T.A. Bahiya Osrah.   Bilirubin is the product of heme degradation  (80% hemoglobin, 20% other hemo-protein as cytochrome, myoglobin).  Elevated levels.

Lecturer in Biochemistry

HEME SYNTHESIS & DISORDERS

M.Prasad Naidu MSc Medical Biochemistry, Ph.D.Research Scholar.

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

PORPHYRIN METABOLISM JANE NYANDELE DEPT. OF BIOCHEMISTRY HKMU.

HEME METABOLISM.

Iron and heme metabolism

Heme Metabolism.

Aino Pynttäri & Margareta Kurkela

Dr. Shumaila Asim Lecture # 8

Lecturers of Medical Biochemistry and Molecular Biology

PORPHYRIN METABOLISM dr Agus Budiman L..

Metabolism of porphyrins: metabolism of bile pigments, biochemistry of jaundices. 1.

Porphyrins and bile pigment

Structure, function and metabolism of hemoglobin

Porphyrin and Heme Metabolism

Dr. Shumaila Asim Lecture # 2

Conversion of Amino Acids to Specialized Products

Estimation of Serum Bilirubin (Total & Direct)

Presentation transcript:

PORPHYRIAS  A group of rare disorders caused by deficiencies of enzymes of the heme biosynthetic pathway  Affected individuals have an accumulation of heme precursors (porphyrins), which are toxic at high concentrations  Attacks of the disease are triggered by certain drugs, chemicals, and foods, and also by exposure to sun  Treatment involves administration of hemin, which provides negative feedback for the heme biosynthetic pathway, and therefore, prevents accumulation of heme precursors

PORPHYRIAS GLYCINE + SuccinylCoA  -aminolevulinic acid(ALA) Porphobilinogen(PBG) hydroxymethylbilane uroporphyrinogen III coprophyrinogene III Protoporphyrinogene IX protoporphyrin IX Heme ALA synthase ALA dehydratase PBG deaminase Uroporphyrinogen III cosynthase Uroporphyrinogen decarboxylase Coproporphyrinogen oxidase Protoporphyrinogen oxidase Ferrochelatase ALA-dehydratase Deficiency porphyria Acute intermittent porphyria Congenital erythropoietic porphyria Prophyria cutanea tarda Herediatary coproporphyria Variegate porphyria Erythropoietic protoporphyria Mitochondria

BLOOD CELLS LIVER Bilirubin diglucuronide (water-soluble) 2 UDP-glucuronic acid via bile duct to intestines Stercobilin excreted in feces Urobilinogen formed by bacteria KIDNEY Urobilin excreted in urine CO Biliverdin IX  Heme oxygenase O2O2 Bilirubin (water-insoluble) NADP + NADPH Biliverdin reductase Heme Globin Hemoglobin reabsorbed into blood Bilirubin (water-insoluble) via blood to the liver INTESTINE Figure 2. Catabolism of hemoglobin

Jaundice Normal ranges: (bilirubin) Total bilirubin = mg/dL Direct bilirubin = less than 0.3mg/dL Indirect bilirubin = less than 0.9mg/dL Two forms Direct bilirubin: Conjugated with glucoronic acid Indirect bilirubin: unconjugated, insoluble in water.

A. Hemolytic anemia excess hemolysis  unconjugated bilirubin B. Hepatitis  unconjugated bilirubin  conjugated bilirubin

C. Biliary duct stone  conjugated bilirubin (in blood)

Lab results of three different causes of Jaundice ConditionSerum BillirubinUrine Urobilinogen Urine Biollirubin Fecal Urobilinogen NormalDirect: mg/dl Indirect: mg/dl 0-4mg/24hAbsent40-280mg/24h Hemolytic anemia Indirect (Increase)IncreasedAbsentIncreased HepatitisDirect &Indirect (Increased) Decreased if micro- obstruction present Present if micro- obstruction occurs Decreased Obstructive jaundice Direct(Increased)AbsentPresentTrace to absent

Genetic Disorders of Bilirubin Metabolism ConditionDefectBilirubinClinical Findings Crigler-Najjar syndrome-I severely defective UDP-glucuronyltransferase Unconjugated bilirubin  Profound jaundice Dubin- Johnson syndrome abnormal transport of conjugated bilirubin into the biliary system Conjugated bilirubin  Jaundice

THANKS