How Do You Spell PHENYLKETONURIA IS?

1. Phenylketonuria (PKU) is a rare inherited disorder characterized by the inability of the body to properly metabolize a specific amino acid called phenylalanine. This condition is caused by a defect in the gene responsible for producing an enzyme called phenylalanine hydroxylase (PAH) or other proteins involved in its conversion.

   Individuals with PKU lack or have reduced levels of this enzyme, leading to the accumulation of phenylalanine in the blood and other bodily fluids. If left untreated, the excess phenylalanine can build up to toxic levels and cause damage to the brain, leading to mental and developmental disabilities.

   The condition is typically detected through newborn screening tests in the first few days of life. Early diagnosis is crucial to start treatment before any damage occurs. Management of PKU involves a strict dietary restriction of foods high in phenylalanine, such as meat, dairy products, and some fruits and vegetables. Instead, special medical foods and formulas low in phenylalanine are prescribed to ensure proper growth and development.

   Without adherence to the prescribed diet, individuals with PKU may experience learning disabilities, intellectual disability, behavioral problems, seizures, and other neurological complications. However, with early and lifelong management, individuals with PKU can live relatively healthy and normal lives. Regular monitoring of phenylalanine levels and close medical follow-up are essential to prevent complications and ensure optimal physical and cognitive development.

Common Misspellings for PHENYLKETONURIA IS

The word "phenylketonuria" is derived from several roots:

1. "Phenyl" comes from the Greek word "phainō" which means "to show" or "to appear". It is commonly used as a prefix in chemistry to indicate a compound that contains a phenyl group.

2. "Ketone" comes from the Middle English word "keton", ultimately derived from the Latin word "acetum" which means "vinegar". In chemistry, a ketone refers to a compound that contains a carbonyl group bonded to two other carbon atoms.

3. "Uria" comes from the Greek word "ouron" which means "urine". It is commonly used as a suffix in medical terminology to indicate a condition that affects the urine.