Regulation of enzyme activity. Enzymodiagnostic. Enzymopathy

Slides:



Advertisements
Similar presentations
Alterations in Metabolic Status Jan Bazner-Chandler RN, MSN, CNS, CPNP.
Advertisements

Inborn Errors of Amino Acid Metabolism
Phenylketonuria (PKU)
Amino acid oxidation and the production of urea
Faculty of nursing CHEM 203 Biochemistry UNIT VII Amino acids, Protein chemistry and metabolism Part Dr. Ola Fouad Talkhan.
Genetic Diseases.
Aminoaciduria.
Phenylketonuria (PKU) TAM NGUYEN CHEM Introduction  PKU is a common inborn metabolic disorder caused by a deficiency of the liver enzyme phenylalanine.
Genes and Medical Genetics
Phenylketonuria By John Fenlon March of Dimes 2009.
FIGURE (part 2) Urea cycle and reactions that feed amino groups into the cycle. The enzymes catalyzing these reactions (named in the text) are distributed.
Chapter 12: Patterns of Heredity & Human Genetics
PKU Phenylketonuria Polly Bainbridge Samantha Miller Madison Mitchell.
Seven Amino Acids Are Degraded to Acetyl-CoA 1Dr. Nikhat Siddiqi.
INHERİTED DİSEASES OF AMİNO ACİD METABOLİSM Prof.Dr.Arzu SEVEN 1.
Postnatal Screening – Diagnostic testing for metabolic disorders.
SPECIFIC WAYS OF AMINO ACID CATABOLISM
MAPLE SYRUP URINE DISEASE (MSUD) IS A METABOLISM DISORDER PASSED DOWN THROUGH FAMILIES IN WHICH THE BODY CANNOT BREAK DOWN CERTAIN PARTS OF PROTEINS. URINE.
Amino Acid Degradation and Synthesis
CHEMISTRY AND LIFE One unromantic but productive way of viewing life is to see it as a set of coordinated chemical reactions. This leads to an obvious.
Genetic Disorders.
Structure and physical-chemical properties of enzymes.
11.1 GENETIC DISORDERS  BACKGROUND INFORMATION (Early 1900s) Sir Archibald Garrod, British physician, discovered patterns of inheritance leading to alkaptonuria—
PKU Phenylketonuria. What is PKU? PKU (phenylketonuria), is a rare, inherited metabolic disease that affects the way the body processes protein. People.
Inborn Errors of Metabolism Monica Egan. Video Links Part 1: – xWwY&feature=plcphttp://
Amino acid metabolism V. Enzymopathies related to amino acid metabolism Figures: Lehninger-4ed; chapter: 18 (Stryer-5ed; chapter: 23)
Phenylketonuria (PKU) By: Greg Ancmon and Brennan Ramos Period 2.
7-5 Phenylketonuria Report
1 Meeting Children’s Special Food and Nutrition Needs in Child Nutrition Programs Lesson 4: Understanding Inborn Errors of Metabolism Define inborn errors.
Urea Cycle and Inborn Errors of metabolism COURSE TITLE: BIOCHEMISTRY 2 COURSE CODE: BCHT 202 PLACEMENT/YEAR/LEVEL: 2nd Year/Level 4, 2nd Semester M.F.Ullah,
Essentials of Life. Nutrients: Substances in food that your body needs Water - Helps in digestion absorption of food - regulates body temperature - carries.
Individual amino acids metabolism of clinical importance ط Overview of synthesis of some important products of amino acids : Phenylalanine, Tyrosine, Tryptophane,
Inborn Errors of Amino Acid Metabolism (Renal Block) Biochemistry of: Phenylketonuria (PKU) Maple Syrup Urine Disease (MSUD) Albinism Homocyteinuria Alkaptonuria.
Basic Patterns of Human Inheritance Section 11.1 Page 296.
PKU- Cell Storage Disorder!! By: Brianna Hopkins.
1 Meeting Children’s Special Food and Nutrition Needs in Child Nutrition Programs Lesson 4: Understanding Inborn Errors of Metabolism Define inborn errors.
HEREDITARY METABOLIC DISEASES. Particular risk factors are: Advanced maternal age (e.g. Down's syndrome) Family history of inherited diseases (e.g. fragile.
 Genetic Family Tree  Maps only one trait at a time.
Phenylketoriuria (PKU)
Hormonal regulation of human skeletal muscle protein metabolism
Maple Syrup Urine Disease (MSUD)
protein/
Discuss the nutritional requirements of small animals including deficiency symptoms and functions Objective 6.01.
Nutritional therapy in children with in-born errors of metabolism.
m I n o c d S M E T B O L * Branched chain AA Valine Leucine
Metabolism Metabolism is “the chemical reactions of life; all the various processes by which you obtain energy, grow, heal, think, feel, and dispose of.
Great deals on health supplements and vitamins.New Zealand site. Order now!
A family history of a genetic condition © 2007 Paul Billiet ODWSODWS.
Inborn Errors of Amino Acid Metabolism
Amino Acid Metabolism CHY2026: General Biochemistry.
Inherited Genetic Disorders & Pedigrees
INBORN ERRORS OF AMINO ACIDS METABOLISM
KA 4: Ante- and postnatal screening
One day or day one you decide ..
A m I n o c d S M E T B O L Phenylalanine
Mutations.
INBORN ERRORS OF AMINO ACIDS METABOLISM
Lecture 2: Inborn Errors of aminoacid Metabolism
SPECIFIC WAYS OF AMINO ACID CATABOLISM
Aromatic amino acid metabolism
Aminoaciduria.
Inborn Error of Metabolism
Amino Acid Biosynthesis & Degradation
Maple syrup urine By:Ulysees Wingo Jr..
How they are affected by mutations.
SPECIFIC WAYS OF AMINO ACID CATABOLISM
PHENYLKETONURIA (PKU) BY: BORA LUCAJ.
SPECIFIC WAYS OF AMINO ACID CATABOLISM
Proteins.
Presentation transcript:

Regulation of enzyme activity. Enzymodiagnostic. Enzymopathy Regulation of enzyme activity. Enzymodiagnostic. Enzymopathy. Enzymotherapy. 1

An important first step in restoring health and well-being by helping to remedy digestive problems. Food (plant) enzymes and pancreatic (animal) enzymes are used in complementary ways to improve digestion and absorption of essential nutrients. Treatment includes enzyme supplements, coupled with healthy diet that features whole foods. Plant-derived enzymes and pancreatic enzymes can be used independently or in combination.

A chart of the numerous digestive enzymes of the body and their functions. Amylasedigests starchesBromelaina proteolytic, anti-inflammatory food enzyme from pineapple. Aids digestion of fatsCatalaseworks with SOD to reduce free radical productionCellulasedigests cellulose, the fibrous component of most vegtable matter Chymotrypsinhelps convert chyme Diastasea pontent vegtable starch digestantLactasedigests lactose, or milk sugar, (almost 65% of humans are deficient).Lipasedigests fats.Mycozymea single-celled plant enzyme for digestion of starches.Pancreatina broad spectrum, proteolytic digestive aid, derived from secretions of animal pancreas; important in degenerative disease research. Papin and chymopapainproteolytic food enzymes from unripe papaya; a veegatable pepsin for digesion of proteins. These enzymes help loosen nercotic and encrusted waste material from the intestinal walls.Pepsina proteolytic enzyme that breaks down proteins into peptides. Can digest 3500 times its weight in proteins.Proteasedigests proteinsRenninhelps digest cow's milk products.Trypsina proteoytic enzyme 

enzymopathy Any of various disturbances of enzyme function, such as the genetic deficiency of a specific enzyme.

Celiakia

INBORN ERRORS OF AMINO ACIDS METABOLISM Alcaptonuria – inherited disorder of the tyrosine metabolism caused by the absence of homogentisate oxidase.

As a result, a substance called homogentisic acid builds up in the skin and other body tissues. The acid leaves the body through the urine. The urine turns brownish-black when it mixes with air. Alkaptonuria is inherited, which means it is passed down from parents to their children. To get this disease, each of your parents must pass you a copy of the faulty HGD gene.

Symptoms Urine in an infant's diaper may darken and can turn almost black after several hours. However, many persons with this condition may not know they have it until mid-adulthood (around age 40), when joint and other problems occur. Symptoms may include: Arthritis (especially of the spine) that gets worse over time Darkening of the ear Dark spots on the white of the eye (sclera) and cornea

homogentisic acid is accumulated and excreted in the urine turns a black color upon exposure to air In children: urine in diaper may darken In adults: darkening of the ear dark spots on the on the sclera and cornea arthritis

Maple syrup urine disease - the disorder of the oxidative decarboxylation of -ketoacids derived from valine, isoleucine, and leucine caused by the missing or defect of branched-chain dehydrogenase. The levels of branched-chain amino acids and corresponding -ketoacids are markedly elevated in both blood and urine. The urine has the odor of maple syrup The early symptoms: lethargy ketoacidosis unrecognized disease leads to seizures, coma, and death mental and physical retardation

Phenylketonuria is caused by an absence or deficiency of phenylalanine hydroxylase or of its tetrahydrobiopterin cofactor. Phenylalanine accumulates in all body fluids and converts to phenylpyruvate. Defect in myelination of nerves The brain weight is below normal. Mental and physical retardations. The life expectancy is drastically shortened. Diagnostic criteria: phenylalanine level in the blood FeCl3 test DNA probes (prenatal)