Metabolic Disorder:

Phenylketonuria
Paige Saavedra
Independent Study Mentorship- Fall 2019
Mrs. Daffern
  Some of the information in this PowerPoint came from outside
Warning sources. I did not come up with all of this information by myself.
  My Mentor is MD. Danielle Vice and she works in newborn
Who is my screening. She currently works at UTMB Pediatrics in Bay colony.
Mentor?
https://www.utmbheal
th.com/servicelines/pri
marycare/pediatric-
primary-and-specialty-
care-bay-colony
  ISM stands for Independent Study Mentorship. It is a course that
allows students to shadow professionals in their chosen study. In
All About ISM this course you must have a minimum of 3 hours of mentorship
and 2 hours of activity time. Also, while in this class, we have to
track our progress while with our mentor with logs and projects.

http://mentalfloss.
com/article/59560
2/new-public-
domain-books
  Phenylketonuria is a metabolic disorder that does not allow the
enzyme phenylalanine to build up in the body because it can not
be broken up. I chose this topic because my mentor has many
Phenylketonuria patients that have this disorder. She deals with many types of
metabolic disorders daily, but PKU is one that she receives the
most.
https://www.npkua.
org/News-
Events/Awareness-
Activities
Key Point #1  Definition:
What is  What are amino acids?
Phenylketonuria  Why their body can not properly break down the amino acid.
  What is limited in their diet.
Key Point #2  What types of foods they can not eat.
Diet  What their diet allows them to eat.
  About how many babies are identified with PKU every year.
Key Point #3  How ethnicity causes the disorder to be rarer than others.
Who it effects  What types of PKU there are.

https://www.perkinelm
er.com/corporate/stori
es/china-newborn-
screening.html
  List of symptoms that are easy to detect.
Key Point #4  When patients can be diagnosed.
Symptoms  Effects if they are not diagnosed in time.

https://www.sciencedirect.
com/topics/agricultural-
and-biological-
sciences/phenylalanine-
hydroxylase
  What ways can people treat this disorder.
Key Point #5  How it stays with them their whole life, but they can treat it.
Treatment  If not treated what could happen later in life.

https://www.enfami
l.com/products/phe
nyl-free-1-2-and-
2hp/phenyl-free-1-
1-lb-powder-
can?amp=
  How does PKU affect the brain?
 In what ways are they able to detect and manage PKU through
Research technology.
 What would happen if people were to change their diet when on a
phenylalanine restricted diet.
  My current event was about a boy born in India who was
diagnosed with PKU. It is rare to have this metabolic disorder in
certain ethnic groups because of the earlier origins. It was rare to
have PKU in India, they at first did not know how to treat it but
after awhile they figured out the specific dietary needs of the
Current Event patient. This ties in with my project topic because the patient had
the metabolic disorder that I am currently studying.
  For my product for this assignment I will be making a 3D model of
the enzyme of phenylalanine. I will be using wire and maybe
Product modeling clay to make this 3D object. Also, I will use labels to
label the specific parts of the enzyme.

https://www.biospace.com/articl
e/-cp8r-synlogic-posts-positive-
interim-data-for-synthetic-
biotic-pku-treatment/
  I hope to learn more about this field of study and see what other
Conclusion options it has to offer. During my time with my mentor I hope to
experience meeting patients.
  I would like to thank my Mentor for giving me this opportunity to
shadow her during her work. Also, I would like to thank my
Thank You evaluators for grading this project and Mrs. Daffern for helping me
in this class.
  “Phenylketonuria (PKU).” Mayo Clinic, Mayo Foundation for
Medical Education and Research, 27 Jan. 2018,
www.mayoclinic.org/diseases-
conditions/phenylketonuria/symptoms-causes/syc-
20376302.
Work Cited  Punam Kumari Jha, Nalin Chaudhary, Abhinav P. A Case Report:
Phenylketonuria in a one-year-old child from India. IAIM,
2017; 4(9): 187-190.