branched chain ketoaciduria (Meaning)
branched chain ketoaciduria (n)
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 & Antonyms of branched chain ketoaciduria
No Synonyms and anytonyms found
branched chain ketoaciduria Sentence Examples
- Branched chain ketoaciduria is a rare genetic disorder characterized by the body's inability to metabolize certain amino acids properly.
- Infants born with branched chain ketoaciduria may experience feeding difficulties and failure to thrive if not diagnosed and treated early.
- Individuals with branched chain ketoaciduria may exhibit symptoms such as developmental delays and neurological issues due to the buildup of toxic metabolites.
- The diagnosis of branched chain ketoaciduria typically involves genetic testing and analysis of amino acid levels in the blood and urine.
- Treatment for branched chain ketoaciduria often includes dietary management, such as limiting the intake of specific amino acids.
- Patients with branched chain ketoaciduria may require supplementation with special medical formulas to ensure adequate nutrition while avoiding amino acid accumulation.
- Monitoring and management of branched chain ketoaciduria are essential throughout life to prevent complications and optimize health outcomes.
- Research into gene therapy approaches shows promise for potentially treating or managing branched chain ketoaciduria in the future.
- Families affected by branched chain ketoaciduria often benefit from support groups and resources to navigate the challenges of living with this condition.
- Early detection and intervention can significantly improve the prognosis and quality of life for individuals with branched chain ketoaciduria.
FAQs About the word branched chain ketoaciduria
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 ear
No synonyms found.
No antonyms found.
Branched chain ketoaciduria is a rare genetic disorder characterized by the body's inability to metabolize certain amino acids properly.
Infants born with branched chain ketoaciduria may experience feeding difficulties and failure to thrive if not diagnosed and treated early.
Individuals with branched chain ketoaciduria may exhibit symptoms such as developmental delays and neurological issues due to the buildup of toxic metabolites.
The diagnosis of branched chain ketoaciduria typically involves genetic testing and analysis of amino acid levels in the blood and urine.
