Donovan Lyons

Phenylketonuria

2/27/15

What is it?
Phenylketonuria (PKU) is a very rare inherited birth defect that causes the Amino
Acid Phenylalanine to build up in the body. Without the enzyme to process
phenylalanine, there would be major health problems for the patients.

Symptoms

Developmental: learning disability, failure to thrive, short stature, delayed

development, or slow growth.
Skin: loss of color or rashes
Cognitive: Slowness in activity and thought or intellectual disability
Other: Body Odor, Hyperactivity, seizures, or urine odor

Treatment
Treatment and a Low Protein diet can help. There is a lot of specialists that have to
see the patient to help with different problems. Neurologist: Treats nervous system
disorders. Nutritionist: Specializes in food and diet. Psychiatrist: treats mental
disorders. Pediatrician: provides medical care for infants, children, and teenagers.
Medical Geneticist: diagnoses and manages hereditary disorders.

Prognosis
Yes it is a Treatable disorder, As long as the patient keeps a low protein diet.

Resources
http://www.mayoclinic.org/diseasesconditions/phenylketonuria/basics/definition/con-20026275
http://ghr.nlm.nih.gov/condition=phenylketonuria