Maple Syrup Urine Disease (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
- The infant was diagnosed with maple syrup urine disease and immediately began a strict diet to manage the condition.
- Early detection and intervention are crucial for children with maple syrup urine disease to prevent long-term developmental delays.
- A team of researchers is working to develop new treatments for maple syrup urine disease, a rare genetic disorder that affects approximately 1 in 185,000 births worldwide.
- Maple syrup urine disease is caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase complex, an enzyme essential for breaking down certain amino acids.
- Prenatal testing can identify maple syrup urine disease, enabling parents to prepare for the special needs of their child before birth.