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branched chain ketoaciduria

branched chain ketoaciduria

9.9
A genetic illness that makes urine smell like maple syrup and can damage the brain in young children
  • noun
  • /ˈbrænʧt ʧeɪn ˌkiːtoʊˌæsɪˈdʊəriə/
  • Specialized
translation icon : cetoaciduria de cadena ramificada
  • Untreated branched chain ketoaciduria can quickly lead to severe brain damage or death in young children.

Examples

  • Doctors diagnosed the infant with branched chain ketoaciduria after detecting a maple syrup odor in his urine.

  • Genetic counseling is important for families with a history of branched chain ketoaciduria.

  • Children with branched chain ketoaciduria may require special diets.

  • The branched chain ketoaciduria condition can lead to serious health issues.

  • Doctors diagnosed the infant with branched chain ketoaciduria after detecting a sweet, maple syrup-like odor in his urine.

  • Untreated branched chain ketoaciduria can lead to severe neurological problems and may result in early childhood death.

  • Genetic counseling is essential for families affected by branched chain ketoaciduria to understand the disorder.

Synonyms

maple syrup urine disease
vsbranched chain ketoaciduria
  • Specialized
9.5

A rare inherited illness that makes urine smell like maple syrup and can cause brain damage or death in babies

is a technical medical term that names the disorder formally

Surface Forms

Morphology

branched + chain + ketoaciduria

The phrase is compositionally built: 'branched chain' modifies 'ketoaciduria', so a learner who knows 'ketoaciduria' (excess ketones in urine) can infer this is a form of ketoaciduria involving branched-chain compounds. However, the term is highly technical and the full clinical implications (that it is an inherited metabolic disorder with maple‑syrup odor and serious neurological risks) are specialized and not predictable from the parts for a B1 learner, making the transparency only partial.

Etymology

Branched chain ketoaciduria literally describes what goes wrong in the body: branched chain means certain parts of protein with a forked shape, ketoacid are the acids they turn into, and '-uria' means 'in the urine'. Doctors first noticed a sweet, 'maple syrup' smell in babies' urine, so the name points to the chemical build-up in the urine that causes the disease.