What does phenylketonuria mean?
Phenylketonuria, commonly abbreviated PKU, is an inherited metabolic disorder that affects how the body processes phenylalanine, an amino acid present in most protein-containing foods. People with the condition lack enough functional phenylalanine hydroxylase, the enzyme needed to convert phenylalanine into another substance, so phenylalanine can accumulate in the blood. If untreated, this can cause severe intellectual disability, seizures, and other neurological problems, particularly during early childhood. Newborn screening allows the condition to be identified before symptoms become apparent. Management generally involves lifelong medical supervision and a diet carefully restricted in phenylalanine but supplemented with the nutrients needed for normal growth. Early diagnosis and consistent treatment can prevent most serious complications, making newborn testing and early dietary intervention central to the management of phenylketonuria.
nounAn inherited metabolic disorder in which the body cannot properly process phenylalanine, causing this amino acid to accumulate in the blood and potentially damage the developing brain. It is usually detected through newborn screening and is managed with a medically supervised diet low in phenylalanine.
- An inherited metabolic disorder characterized by the body's inability to metabolize phenylalanine normally, resulting in its accumulation in the blood and possible neurological harm if untreated.
"The infant was diagnosed with phenylketonuria through routine newborn screening."
"Routine newborn screening identified phenylketonuria in the baby."
"People with phenylketonuria must follow a carefully controlled diet that limits phenylalanine intake."
The condition is commonly treated as a mass noun, so plural forms are uncommon. A count plural may refer to diagnosed individuals or cases.
"The study included children with phenylketonurias diagnosed by newborn screening."
A routine newborn blood test can detect phenylketonuria before the condition causes lasting harm.
Reviewed by Deb Chak, Editor. AI-assisted content curated by RJS Tech Solutions LLP.
Where does phenylketonuria come from?
The term was formed in the early 20th century from elements referring to phenyl, ketones, and urine, reflecting the condition's characteristic biochemical and clinical features. The final element comes through combining forms associated with Greek ouron, meaning "urine." Its components are shared with related medical and chemical terms such as phenylalanine and ketone.
Related word forms
How phenylketonuria is actually used
This is a specialist medical term, usually shortened to PKU in clinical and public-health contexts. It may be used as a count noun when referring to an affected person or diagnosed case, but the condition itself is often treated as a mass noun.
Easily confused with phenylketonuria
Phenylalanine is an amino acid found in protein, whereas phenylketonuria is the inherited disorder that prevents the body from metabolizing it properly.