Phenylketonuria (PKU):

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PKU involves an inability to metabolize phenylalanine, an amino acid. The accumulation of this amino acid can lead to brain damage, intellectual disability, and other complications if not treated. PKU is caused by a mutation in the gene responsible for producing the enzyme that converts phenylalanine to another amino acid called tyrosine. It is inherited in an autosomal recessive manner, meaning a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. PKU occurs in about 1 in 10,000 to 15,000 births. Treatment usually involves a strict low-phenylalanine diet and monitoring of blood phenylalanine levels.