PHENYLKETONURIA

WHAT IS IT

• When a baby is born without the ability to break down amino acids

SYMPTOMS

• infants with the condition often have lighter skin, hair, and eyes than brothers or sisters without the disease.
• Delayed mental and social skills
• Head size significantly below normal
• Jerking movements of the arms or legs
• intellectual disability

TREATMENT

• A diet that is very low in phenylalanine
• A special infant formula called Lofenalac
• Fish oil supplements

PROGNOSIS

• If the diet is started right after birth then the kid should be fine
• But if the treatment is delayed or not treated then brain damage will happen
• If proteins containing phenylalanine are not avoided, PKU can lead to intellectual disability by the end
• ^of the first year of life.
• ADHD is possible

MUTATION

• Autosomal recessive

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