Phenylketonuria

(PKU)

What Happens to the Body. What it Generally Effects.

What happens to your body is it cant break down amino acids, which these acids help build up protein. This normally effects the blood and body tissues in your body.

Symptoms.

  • Mental Retardation
  • Behavioral or social problems
  • Seizures, Tremors, or jerking in arms and legs
  • Hyperactivity
  • Stunted Growth
  • Skin rashes ( Eczema)
  • Small head size
  • Odor in breath, skin, or urine
  • Fair skin and blue eyes

Cause of Disorder.

Normally passes down from family, Both parents must have the gene to have a baby with the condition. this is recessive. when a baby is born with PKU its miss Enzyme called Phenylalanine Hydroxylase, which is need to break down amino acids. This is found in food. without enzyme, levels of Phenylalanine and 2 closely related. build up in the body these are harmful to the central nervous system and can cause brain damage.

How this disorder is inherited.

How this disorder is inherited is its sexed-linked, it is located in chromosome 12. this is an recessive trait both parents need to have PKU to have a baby born with it

Treatments.

PKU is treatable. It is treatable by a diet low on Pheylalanine, also good to use when child is growing. the diet has to be strictly followed, close supervision by registered dietitian or doctor, people who continue the diet into adulthood have physical and mental health. Diet for life is standard recommended by experts.


Milk, eggs, and other common food, also artificial sweetener, NutraSweet also contains phenylalanine all these should be avoided.


lofenalac is made for infants with PKU. it can be used for protein through a lifetime.

taking supply such as fish oil to replace the long chain fatty acids from standard phenylalanine- free diet may help improve neurologic

How they diagnosed PKU

Taking blood from the heel of a babies foot

Diagnosed.

Few drops of blood is collected from a baby's heel or bend in the babies arm, also they can have additional test done to confirm the diagnoses including more blood test and urine test.

How common is it?

Most common in Native American and Northern European 1 in 10,000 to 15,000 is born with PKU a year. PKU is found in very few people and it is very hard to keep a good diet is born with PKU.

What Ive Learned.

what i've learned is that its very hard to get pku and is found in very few people. and when you have this disorder you have to keep a very strict diet.

Meghan Napier 1st period