PKU Phenylketonuria

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PKU Phenylketonur ia Polly Bainbridge Samantha Miller Madison Mitchell

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PKU Phenylketonuria. Polly Bainbridge Samantha Miller Madison Mitchell. What is PKU?. “PKU is an inherited metabolic disease in which the body can’t change one essential amino acid, phenylalanine, into another needed amino acid, tyrosine.”. Symptoms of PKU. Light hair, eyes, and skin - PowerPoint PPT Presentation

Transcript of PKU Phenylketonuria

Page 1: PKU Phenylketonuria

PKUPhenylketonuria

Polly BainbridgeSamantha MillerMadison Mitchell

Page 2: PKU Phenylketonuria

“PKU is an inherited metabolic disease in which the body can’t change one essential amino acid, phenylalanine, into another needed amino acid, tyrosine.”

What is PKU?

Page 3: PKU Phenylketonuria

Light hair, eyes, and skin Eczema-like rash Seizures Hyperactivity Unpleasant musty/ mousy body

odor Mental retardation

Symptoms of PKU

Page 4: PKU Phenylketonuria

Special diet starting a few days after birth

People must limit their intake of protein in their diet for their whole lives

Babies must drink a special formula without phenylalanine.

Treatments

Page 5: PKU Phenylketonuria

Genetics of PKU

It is inherited from parents due to a mutated PAH (phenylalanine hydroxylase) gene on chromosome 12.

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http://www.webmd.com/parenting/baby/tc/phenylketonuria-pku-treatment-overview

http://www.ygyh.org/pku/inherited.htm

Human Diseases and Conditions Vol. 3

Sources

http://www.webmd.com/parenting/baby/tc/phenylketonuria-pku-treatment-overview
http://www.webmd.com/parenting/baby/tc/phenylketonuria-pku-treatment-overview
http://www.webmd.com/parenting/baby/tc/phenylketonuria-pku-treatment-overview
http://www.ygyh.org/pku/inherited.htm

University of Groningen Dietary Treatment in PKU from ... · Background: Protein intake recommendations in Phenylketonuria (PKU) are frequently subject of discussion. For healthy

University of Groningen Dietary Treatment in PKU from ... · Background: Protein intake recommendations in Phenylketonuria (PKU) are frequently subject of discussion. For healthy

PHENYLKETONURIA (PKU) AT A GLANCE - MEVALIA · PHENYLKETONURIA (PKU) AT A GLANCE Normal development and growth of the child Absence of neurological and psychiatric deficits Normal

PHENYLKETONURIA (PKU) AT A GLANCE - MEVALIA · PHENYLKETONURIA (PKU) AT A GLANCE Normal development and growth of the child Absence of neurological and psychiatric deficits Normal

Parenting a Child with Phenylketonuria (PKU): an Interpretative Phenomenological ... · 2018-09-11 · ORIGINAL RESEARCH Parenting a Child with Phenylketonuria (PKU): an Interpretative

Parenting a Child with Phenylketonuria (PKU): an Interpretative Phenomenological ... · 2018-09-11 · ORIGINAL RESEARCH Parenting a Child with Phenylketonuria (PKU): an Interpretative

Challenges in the management of Phenylketonuria in Malta · Phenylketonuria (PKU) is a rare metabolic disorder comprising a number of different enzyme deficiencies. In Malta, dihydropteridine

Challenges in the management of Phenylketonuria in Malta · Phenylketonuria (PKU) is a rare metabolic disorder comprising a number of different enzyme deficiencies. In Malta, dihydropteridine

Adjuvant Treatment for Phenylketonuria: Future Research Needs · Phenylketonuria (PKU) is a metabolic disorder in which an inability to properly metabolize the amino acid phenylalanine

Adjuvant Treatment for Phenylketonuria: Future Research Needs · Phenylketonuria (PKU) is a metabolic disorder in which an inability to properly metabolize the amino acid phenylalanine

Phenylketonuria. PKU PKU is a disorder caused by Recessive alleles. The Disorder is found on the 12th chromosome.

Phenylketonuria. PKU PKU is a disorder caused by Recessive alleles. The Disorder is found on the 12th chromosome.

Phenylketonuria (PKU) – Structure of Phenylalanine …

Phenylketonuria (PKU) – Structure of Phenylalanine …

Advances in gene therapy for phenylketonuria (PKU) Cary O. Harding, MD Department of Molecular & Medical Genetics.

Advances in gene therapy for phenylketonuria (PKU) Cary O. Harding, MD Department of Molecular & Medical Genetics.

An Educator’s Guide to PKU - New England …...4 An Educator’s Guide to PKU | childrenshospital.org PKU at a Glance Phenylketonuria, or PKU, is an inherited metabolic disorder

An Educator’s Guide to PKU - New England …...4 An Educator’s Guide to PKU | childrenshospital.org PKU at a Glance Phenylketonuria, or PKU, is an inherited metabolic disorder

Phenylketonuria (PKU) - Complex Carbohydrate Research

Phenylketonuria (PKU) - Complex Carbohydrate Research

Amino acid disorders. Phenylketonuria (PKU) Enzyme defect: phenylalanine hydroxylase (12th chromosome): more than 400 mutations Incidence: Average 1:10,000.

Amino acid disorders. Phenylketonuria (PKU) Enzyme defect: phenylalanine hydroxylase (12th chromosome): more than 400 mutations Incidence: Average 1:10,000.

Phenylketonuria ( PKU )

Phenylketonuria ( PKU )

Phenylketonuria (PKU) disorder and its affects on child and maternal populations.

Phenylketonuria (PKU) disorder and its affects on child and maternal populations.

Genetic Diseases Autosomal Recessive Diseases – PKU (phenylketonuria) caused by a recessive allele found on Chromosome 12 Causes accumulation of phenylalanine.

Genetic Diseases Autosomal Recessive Diseases – PKU (phenylketonuria) caused by a recessive allele found on Chromosome 12 Causes accumulation of phenylalanine.

Adjuvant Treatment for Phenylketonuria (PKU) · Adjuvant Treatment for Phenylketonuria (PKU) Prepared for: Agency for Healthcare Research and Quality U.S. Department of Health and

Adjuvant Treatment for Phenylketonuria (PKU) · Adjuvant Treatment for Phenylketonuria (PKU) Prepared for: Agency for Healthcare Research and Quality U.S. Department of Health and

Phenylketonuria (PKU). PKU at a Glance b Name of disorder: Phenylketonuria (PKU) b OMIM number: 261600 b inheritance pattern: autosomal recessive.

Phenylketonuria (PKU). PKU at a Glance b Name of disorder: Phenylketonuria (PKU) b OMIM number: 261600 b inheritance pattern: autosomal recessive.

Screening for phenylketonuria (PKU) – laboratory methods

Screening for phenylketonuria (PKU) – laboratory methods

Phenylketonuria (PKU) TAM NGUYEN CHEM 4700. Introduction PKU is a common inborn metabolic disorder caused by a deficiency of the liver enzyme phenylalanine.

Phenylketonuria (PKU) TAM NGUYEN CHEM 4700. Introduction PKU is a common inborn metabolic disorder caused by a deficiency of the liver enzyme phenylalanine.

Low Protein Diet for Phenylketonuria (PKU) · PDF filePhenylketonuria (PKU) is a condition in which the body is unable to break down one of the protein building blocks from the diet;

Low Protein Diet for Phenylketonuria (PKU) · PDF filePhenylketonuria (PKU) is a condition in which the body is unable to break down one of the protein building blocks from the diet;

Low Protein Diet for Phenylketonuria (PKU)

Low Protein Diet for Phenylketonuria (PKU)