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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.

Synonyms

  • Branched Chain Ketoaciduria

Hypernyms

  • Inherited Disorder
  • Hereditary Disease
  • Inherited Disease
  • Acetonuria
  • Genetic Abnormality
  • Genetic Defect
  • Congenital Disease
  • Hereditary Condition
  • Ketoaciduria
  • Genetic Disorder
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