PHENYLKETONURIA

ALSO KNOWN AS PKU

• Babies appear fine at birth.
• Effects chromosome 12
• Effects the way amino acid breaks down protien.
• Cannot break down phenylalanine and builds up in blood and poisons nerves cells in the brain.

HOW DOES IT EFFECT THEIR LIVES?

• If not treated PKU can lead to the killings of Brain cells which leads to mental retardation.
• With proper diet can live a normal long life.

SIGNS OF PKU

• Delayed development
• Poor bone strength
• Mental retardation
• Skin rashes ect.

DIAGNOSTICS?

• It's diagnosed by taking blood samples and testing it at birth.
• PKU cannot be detected during pregnancy.

TREATMENT

• By avoiding high Protein food people with PKU can avoid some disabilities.
• Future treatment that could prevent PKU is being researched for pregnant women who have the mutation.

REFRENCES

• http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/sympto...
• http://www.healthline.com/health/phenylketonuria#Overview1
• Ncbi.nlm.nih.gov