10 Interesting Facts About Phenylketonuria Disease

PKU is the abbreviation for phenylketonuria which is a health complication where the body cannot digest a specific amino acid known as phenylalanine. Without treatment, this particular amino acid can build up inside the body causing several health problems. Amino acids are important as they assist in building proteins in the body.

Fact 1: PKU is an inherited condition which means it is passed from parents to children through genes. A carrier is an individual who has only inherited one gene but doesn’t have the condition.

Fact 2: All newborn babies are screened for PKU and the test usually involves taking some blood from the heel.

Fact 3: If untreated, PKU can lead to progressive severe retardation and various other conditions affecting the brain.

Fact 4: Since phenylalanine is crucial for normal development and growth, it cannot be removed completely from a patient’s diet. Hence, PKU treatment involves a special nutrition containing reduced quantities of protein.

Fact 5: Kids who suffer from PKU are generally blond with blue eyes and fair skin. This is likely because PKU reduces melanin synthesis, which provides color or pigment to the eyes, hair and skin.

Fact 6: Management is the only treatment option for PKU and it relies on keeping the levels of phenylalanine down.

Fact 7: The most affected region of the body by PKU is the brain, which results in symptoms like feeling anxious or moody.

Fact 8: A person suffering from PKU needs a unique diet to survive. However, it is a must to remain on this diet always for life.

Fact 9: If you fail to manage PKU and go off diet, then you can get irreparable brain damage or lose your intelligence.

Fact 10: Reports indicate that there is a greater possibility of getting ADHD amongst children diagnosed with PKU.

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