PHENYLKETONURIA (PKU)

WHAT IS IT

• PKU for short
• Inherited disorder
• Can be mild or severe
• Causes phenylalanine build up
• Lack of hydroxylase
• Phenylalanine is an amino acid

INHERITING THE DISORDER

• Recessive trait (autosomal recessive)
• Only given at birth
• Very rare, 1 in 12,000 people in North America
• 300 new cases per year

PKU DIET

• Avoid dairy products
• Avoid certain grains
• Avoid meats
• Avoid artificial sweeteners and aspartame
• Avoid nuts

TREATMENTS

• Follow the diet plan
• There is no known cure
• If prescribed you can take the drug Kuvan
• Book a doctors appointment
• Chance of death if they don't follow to the diet

SYMPTOMS

• Mild or severe
• Newborns show symptoms after few months
• Albinism
• Microcephaly
• Tremors, rashes, seizures, hyperactive, disabilities, emotional and social issues
• Can lead to irreversible brain damage

TESTING AND PREVENTION

• On chromosome 12
• Affects both alleles of the gene
• Children in Canada are tested within 10 days of their birth
• Doctors can make treatments for the child in its early life

REFERENCES

• https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-cau...
• https://ghr.nlm.nih.gov/condition/phenylketonuria
• https://canpku.org/about-pku-2
• https://www.healthlinkbc.ca/health-topics/hw44745
• https://www.excemed.org/frequently-asked-questions-about-pku