 By: Christer Löfkrantz and Nita Helseth.  Autosomal recessive disorder  Protein complex BCKD (Branched- chain alpha-ketoacid dehydrogenase)  Mutations.

Slides:

Advertisements

Similar presentations

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

Advertisements

Honors Biology Genetic Disorders.

Maple Syrup Urine Disease

Phenylketonuria (PKU)

Genetic Diseases.

Galactosemia screening why? when? how? Clinical Children`s Hospital “Louis Turcanu ” Timisoara, Romania.

Mama Mia Sofia [Thai] Damonster [a.k.a. Damani J.]

Chapter 11 Newborn Screening. Introduction Newborns can be screened for an increasing variety of conditions on the principle that early detection can.

ANNE LEHMAN 8/29/13 MAPLE SYRUP URINE DISEASE. BACKGROUND Autosomal recessive metabolic disorder Mutation in genes encoding Branched-chain α- ketoacid.

IN THE NAME OF GOD phenylketonuria.

Phenylketonuria By John Fenlon March of Dimes 2009.

Citrullinemia Sara Harris and Angela Stancil. Introduction Urea Cycle Disorder Inherited AR Two forms: type I (classic) and type II (adult onset) Prevalence:

INHERİTED DİSEASES OF AMİNO ACİD METABOLİSM Prof.Dr.Arzu SEVEN 1.

Postnatal Screening – Diagnostic testing for metabolic disorders.

CARBOHYDRATE METABOLISM- INHERITED DISORDERS DR. Tagreed Osman.

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

ED Board Questions Tamara Gayle, MD PGY-1. A 4 year old girl who has the classic form of Maple Syrup Urine Disease is brought to the emergency department.

Maple Syrup Urine Disease

Amino acid Profiling Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, MASA What is amino acid profiling? Amino acids are.

Pregnancy & Newborn Screening Developments Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD)

Genetic Disorders.

Maple Syrup Urine Disease

Inborn Errors of Metabolism Monica Egan. Video Links Part 1: – xWwY&feature=plcphttp://

The Story of three brothers. MSUD is a potentially deadly disorder that affects the way the body breaks down three amino acids, leucine, isoleucine, and.

Phenylketonuria (PKU) By: Greg Ancmon and Brennan Ramos Period 2.

1 Meeting Children’s Special Food and Nutrition Needs in Child Nutrition Programs Lesson 4: Understanding Inborn Errors of Metabolism Define inborn errors.

Gary Hoffman Wisconsin Newborn Screening Laboratory

Individual amino acids metabolism of clinical importance ط Overview of synthesis of some important products of amino acids : Phenylalanine, Tyrosine, Tryptophane,

PKU- Cell Storage Disorder!! By: Brianna Hopkins.

Presenters: PICU/AO1 UNIT Moderators: Dr Somwe Dr Mwenechanya

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.

Inherited disorder of body chemistry.  Through Newborn Screening almost all affected newborns are diagnosed and treated early.  Untreated PKU causes.

Phenylketoriuria (PKU)

What Do You Know About PKU?

Metabolic Disorders Inborn Errors of Metabolism Dr. Sara Mitchell.

Maple Syrup Urine Disease (MSUD)

Nutritional therapy in children with in-born errors of metabolism.

Many hundred disorders resulting from this type of inheritance are known An affected individual is homozygous for the abnormal gene, having inherited an.

1.Is NS-NPD caused by defect in a single gene or is more than one gene involved? Mutations in the NPC1, NPC2, and SMPD1 genes cause Niemann-Pick disease.

Huntington’s is caused by a faulty DOMINANT GENE You only need one copy of the gene from the affected parent. Each child has a 50% chance of inheriting.

Classic Severe Maple Syrup Urine Disease Albert Yu.

BIOLOGY FALL 2014 MUTATIONS. WHAT ARE MUTATIONS? Mutations = changes in the genetic material Mutations can happen when cells make mistakes in copying.

GENETIC BASIS OF DISEASE- part 2. Genetic basis of disease part 2 objectives a. Define inborn errors of metabolism b. Describe the common characteristic.

Amino Acid Metabolism CHY2026: General Biochemistry.

Hemorrhagic disease of the newborn

KA 4: Ante- and postnatal screening

Nutrition in glutaric acidemia

A m I n o c d S M E T B O L Phenylalanine

Dietary management of classical homocystinuria (CBS deficiency)

INBORN ERRORS OF AMINO ACIDS METABOLISM

Metabolism in Nervous Tissue

Galactosemia(GALT) By Raveeja V Deshpande.

Lecture 2: Inborn Errors of aminoacid Metabolism

Nutrition Management of Maple Syrup Urine Disease

Inborn Error of Metabolism

The Newborn Screen.

HEREDITARY METABOLIC DISEASES

The human liver contains many specialized cells that secrete bile

Disorders of Amino Acid Metabolism

Amino Acid Biosynthesis & Degradation

argininosuccinate lyase What does this protein make up or do?

Maple syrup urine By:Ulysees Wingo Jr..

2/15/2019 Shadab Salehpour.

Phenylketonuria (PKU) is a rare genetic condition in which a baby cannot “metabolize,” or digest, an essential amino acid called phenylalanine that is.

Maple Syrup Urine By: Joe Harvey.

Presentation transcript:

 By: Christer Löfkrantz and Nita Helseth

 Autosomal recessive disorder  Protein complex BCKD (Branched- chain alpha-ketoacid dehydrogenase)  Mutations of at least four genes  Unable to break down three types of amino acids (Leucine, Isoleucine and valine)

 Accumulation of the amino acids in the blood  Toxic substances  Cause permanent brain damage  Developmental delay  Mother’s milk  Infection

 Sweet–smelling urine(Maple syrup)  Poor appetite  Weak suck  Vomiting  High pitched cry  Low energy/extreme sleepiness  ‘‘Meningitis’’  Seizures  Coma

 Early diagnosis prevent brain damage  Dietary restriction of Leucine, Isoleucine and Valine  Infants: Special formula of milk  Adult: Protein-free diet  Liver transplantation  Newborn screening

 Aproximately 1 in infants each year are diagnosed with MSUD worldwide  10 cases of MSUD are known in Norway

 d/msud/ d/msud/   Disease.htm Disease.htm  ders/MSUD.html#1 ders/MSUD.html#1  le%20Syrup%20Urine%20Disease%20(MSUD)&aid= le%20Syrup%20Urine%20Disease%20(MSUD)&aid=8729