Branched Chain Ketoaciduria (Noun)
Meaning
An inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood.
Classification
Nouns denoting natural processes.
Examples
- Branched-chain ketoaciduria is a rare but serious genetic disorder that affects the body's ability to metabolize certain amino acids.
- The child was diagnosed with branched-chain ketoaciduria after a series of tests revealed the characteristic maple syrup odor in her urine.
- If left untreated, branched-chain ketoaciduria can lead to severe neurological damage and even death in early childhood.
- Researchers are working to develop new treatments for branched-chain ketoaciduria, which is caused by a defect in the enzyme that breaks down certain amino acids.
- Early diagnosis and treatment of branched-chain ketoaciduria are critical to preventing long-term damage and improving the quality of life for affected individuals.