Question 1

Can phenylketonuria (PKU) be cured?

Accepted Answer

Phenylketonuria (PKU) has no cure, but it can be effectively managed with a strict, lifelong low-phenylalanine diet and specialized medical formulas. Early diagnosis and treatment help prevent serious health complications.

Question 2

What causes phenylketonuria (PKU)?

Accepted Answer

PKU is caused by mutations in the PAH gene, leading to a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down phenylalanine, an amino acid found in protein-rich foods.
Source: MedlinePlus

Question 3

How does phenylketonuria affect the body?

Accepted Answer

Without treatment, PKU can cause toxic levels of phenylalanine to build up in the blood and brain, potentially leading to intellectual disabilities, developmental delays, seizures, and behavioral problems.

Question 4

What foods should be avoided with PKU?

Accepted Answer

Individuals with PKU should avoid high-protein foods such as meat, dairy, eggs, soy, and nuts. Many also avoid aspartame, an artificial sweetener that contains phenylalanine. Medical supervision is essential when planning meals.

Question 5

When is phenylketonuria testing done in newborns?

Accepted Answer

In the United States, newborn screening for PKU is typically performed within the first 24 to 72 hours after birth using a heel-prick blood sample. Early detection allows for immediate dietary intervention.

Question 6

What chromosome is affected in PKU?

Accepted Answer

PKU results from a mutation in the PAH gene, which is located on chromosome 12. The condition is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene.

Question 7

Who is most at risk for developing phenylketonuria?

Accepted Answer

PKU is more common in individuals of Northern European ancestry, though it can affect people of all ethnic backgrounds. A child must inherit two faulty copies of the PAH gene-one from each parent-to develop the condition.

Question 8

Who discovered phenylketonuria?

Accepted Answer

Phenylketonuria was discovered in 1934 by Norwegian physician Dr. Asbjørn Følling, who identified the condition after observing high levels of phenylpyruvic acid in the urine of two siblings with intellectual disabilities.

Question 9

When was phenylketonuria first discovered?

Accepted Answer

PKU was first identified in 1934 by Dr. Asbjørn Følling. His discovery laid the foundation for early diagnostic testing and dietary treatment that prevents the most severe effects of the condition.

Question 10

How does untreated PKU affect brain function and development?

Accepted Answer

Untreated PKU can lead to toxic phenylalanine buildup, which disrupts brain development. This may result in permanent intellectual disability, seizures, mood disorders, and delayed milestones. Early treatment is critical for normal cognitive development.

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