BRANCHED CHAIN KETOACIDURIA
(noun)Definitions
There is 1 meaning of the phrase
Branched Chain Ketoaciduria.
Branched Chain Ketoaciduria - as a noun
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
Synonyms (Exact Relations)
maple syrup urine diseaseExample Sentences
"Infants with branched chain ketoaciduria may have poor feeding and vomiting."
"The main symptom of branched chain ketoaciduria is a maple syrup-like odor in the urine."
"Early diagnosis of branched chain ketoaciduria is crucial for appropriate treatment."
"Amino acid supplements may be prescribed to manage branched chain ketoaciduria."
"Genetic testing is necessary to confirm a diagnosis of branched chain ketoaciduria."