What does phenylketonuria mean?
Phenylketonuria is a rare genetic disorder caused by the inability to break down the amino acid phenylalanine. This leads to its accumulation in the body, potentially causing brain damage and other health problems. The condition is usually diagnosed in infancy or early childhood, and a strict diet is often necessary to prevent complications. Phenylketonuria is a serious medical condition that requires prompt treatment and management. The genetic disorder is caused by a mutation in the PAH gene, and it is essential to monitor the condition closely to prevent long-term damage. A special diet and regular medical check-ups are crucial for managing phenylketonuria. With proper treatment and care, individuals with phenylketonuria can lead normal lives and achieve their full potential. However, the condition requires ongoing management and monitoring to prevent complications and ensure optimal health outcomes.
nounA rare genetic disorder characterized by the inability to break down the amino acid phenylalanine, leading to its accumulation in the body and potentially causing brain damage and other health problems.
- A rare genetic disorder characterized by the inability to break down the amino acid phenylalanine, leading to its accumulation in the body and potentially causing brain damage and other health problems.
"The child was diagnosed with phenylketonuria and required a special diet to manage the condition."
"The child was diagnosed with phenylketonuria and required a special diet to manage the condition."
"The genetic disorder was caused by a mutation in the PAH gene."
The plural form 'phenylketonurias' is used to refer to multiple individuals with the condition.
"The doctor treated several patients with phenylketonuria."
Reviewed by Deb Chak, Editor. AI-assisted content curated by RJS Tech Solutions LLP.
Etymology of phenylketonuria
The term 'phenylketonuria' is derived from the Greek words 'phenyl' (meaning 'phenyl group') and 'ketone' (meaning 'ketone group'). The suffix '-uria' is a common suffix in medical terminology, indicating a condition or disease. The term 'phenylketonuria' was first used in the early 20th century to describe the condition, which was later identified as a genetic disorder caused by a mutation in the PAH gene.
Usage notes
Phenylketonuria is a serious medical condition that requires prompt treatment and management. The condition is usually diagnosed in infancy or early childhood, and a strict diet is often necessary to prevent complications.