How Do You Spell PHENYLKETONURIA?

1. Phenylketonuria (PKU) is a rare, inherited metabolic disorder that affects the body's ability to process an amino acid called phenylalanine. In individuals with PKU, there is a deficiency or absence of an enzyme called phenylalanine hydroxylase, which is responsible for converting phenylalanine into another amino acid called tyrosine. As a result, phenylalanine builds up to toxic levels in the blood and body tissues.

   PKU is typically detected through newborn screening programs, as high levels of phenylalanine can lead to intellectual disability and other severe health complications if left untreated. Infants with PKU may display signs such as a musty odor in their breath, skin, or urine, developmental delays, seizures, and behavioral issues.

   Treatment for PKU focuses on following a strict low-phenylalanine diet, which restricts the intake of high-protein foods such as meat, fish, eggs, and dairy products. Instead, individuals with PKU are advised to consume specially formulated medical foods and other low-protein substitutes. This controlled diet helps manage phenylalanine levels and prevents the associated health problems.

   With advancements in medical research, a medication called sapropterin dihydrochloride (BH4) may also be prescribed to some individuals with PKU, as it can help improve phenylalanine processing in certain cases.

   Overall, phenylketonuria is a lifelong condition that requires ongoing management and monitoring, aiming to control phenylalanine levels within a safe range to prevent cognitive impairment and other complications.

Common Misspellings for PHENYLKETONURIA

The word "phenylketonuria" is derived from Greek and Latin roots.

"Phenyl" comes from the Greek word "phaino", which means "to appear" or "to show". In this context, it refers to phenylalanine, an amino acid found in proteins that is involved in the condition.

"Keto" comes from the Latin word "keton", meaning "acetone" or "ketone body". It refers to the presence of ketones, which are produced when phenylalanine cannot be properly broken down in individuals with phenylketonuria.

"Uria" is a suffix derived from the Greek word "ouron", meaning "urine". It indicates that phenylketonuria is a metabolic disorder that involves the abnormal presence of phenylalanine and its breakdown products in the urine.

Plural form of PHENYLKETONURIA is PHENYLKETONURIAS