Phenylketonuria (PKU) - PowerPoint PPT Presentation

About This Presentation
Title:

Phenylketonuria (PKU)

Description:

Phenylketonuria (PKU) PKU at a Glance Name of disorder: Phenylketonuria (PKU) OMIM number: 261600 inheritance pattern: autosomal recessive PKU At A Glance PKU is a ... – PowerPoint PPT presentation

Number of Views:279
Avg rating:3.0/5.0
Slides: 22
Provided by: www3NdEd83
Learn more at: https://www3.nd.edu
Category:

less

Transcript and Presenter's Notes

Title: Phenylketonuria (PKU)


1
Phenylketonuria (PKU)
2
PKU at a Glance
  • Name of disorder Phenylketonuria (PKU)
  • OMIM number 261600
  • inheritance pattern autosomal recessive

3
PKU At A Glance
  • PKU is a metabolic disorder caused by a
    deficiency of the liver enzyme phenylalanine
    hydroxylase. It prevents normal metabolization of

4
PKU At A Glance
  • phenylalanine (Phe), one of the essential amino
    acids that cannot be manufactured by the body
    and must therefore be consumed in protein rich
    foods.

5
PKU At A Glance
  • Untreated individuals may give off a musty odor
    and they excrete large amounts of phenylalanine
    in their urine.

6
Phe to Tyr Conversion
  • Enzymes are structures that allow amino acids to
    combine by acting on a substrate and producing a
    new product. Individuals with PKU have a
    deficiency in the enzyme

7
Phe to Tyr Conversion
  • phenylalanine hydroxylase, which converts
    phenylalanine to tyrosine.

8
Phe to Tyr Conversion
9
Metabolic Pathways
  • In individuals with PKU, phenylalanine cant be
    converted into tyrosine, and the metabolic
    process stops short of producing the needed end
    products.

10
Metabolic Pathways
  • Phenylalanine builds up in the body to toxic
    levels, causing mental retardation.

11
PKU Genetics
  • The PKU gene is found on the q arm of chromosome
    12, locus 24.1 in the phenylalanine hydroxylase
    gene

12
PKU Genetics
13
PKU Onset
  • The inability to metabolize PKU exists from the
    time the infant is in the womb.
  • Infants are screened for PKU by a blood test
    shortly after birth.

14
PKU Onset
  • High levels of phenylalanine in the blood
    indicate an inability to process the amino acid,
    and thus indicate that an individual is affected
    by the disorder.

15
PKU Onset
  • Testing must be accomplished quickly since the
    inability to process phenylalanine means it can
    build up to toxic levels and cause severe mental
    retardation.

16
PKU Treatment
  • The only treatment available for PKU is a diet
    where phenylalanine levels are strictly limited.

17
PKU Treatment
  • Meat, fish, eggs, cheese, milk products, legumes,
    and bread are all foods that have high levels of
    phenylalanine

18
PKU Treatment
  • Artificial protein substitutes are given which
    contain amino acids without phenylalanine

19
PKU Prognosis
  • If the condition was not diagnosed early and a
    special diet started, the indidivudal will suffer
    severe and irreversable brain damage.

20
PKU Prognosis
  • If detected early, the individual will develop
    normally but will have to follow the special diet
    at least until adolescence, if not throughout
    their entire life.

21
PKU Prognosis
  • Women with PKU who wish to become pregnant must
    also eat the special diet, since children in the
    womb affected with PKU will not be able to
    metabolize the phenylalanine the mother ingests.
Write a Comment
User Comments (0)
About PowerShow.com