PHENYLKETONURIA (PKU)

DESCRIPTION

• A rare metabolic disorder
• Affects how the body breaks down the amino acid,Phenylalanine.

CAUSES

• Caused by a mutation in a gene on chromosome 12.
• An autosomal recessive disorder
• Can be inherited if both parents are carriers.

SYMPTOMS

• No symptoms at first
• If not treated, it can result in brain damage
• Epilepsy
• Stunted growth
• Eczema

TREATMENTS

• Protein free diet
• Taking extra supplements

PREVENTION

• There is nothing the parents can do to prevent it
• They don't know their child has it until it is too late.
• A mother with PKU could be on a protein free diet.