Branched Chain Ketoaciduria is a rare metabolic disorder that affects the breakdown of specific amino acids in the body. It is characterized by the impaired ability to metabolize branched-chain amino acids (BCAAs), which include leucine, isoleucine, and valine.
Individuals with this condition have a deficiency in the enzymes responsible for breaking down these amino acids, leading to a build-up of toxic by-products called ketoacids. The accumulation of ketoacids in the blood and urine is the hallmark of the disorder.
Symptoms of branched chain ketoaciduria can vary but often include poor feeding, vomiting, failure to thrive, developmental delay, and an unusual odor of the urine. If left untreated, the condition can lead to severe neurological problems such as intellectual disability and epilepsy.
Diagnosis is made through blood and urine tests that measure the levels of amino acids and ketoacids. Early detection and proper management are crucial to prevent complications and improve outcomes. Treatment typically involves dietary restrictions to limit the intake of BCAAs, as well as supplementation with a special formula that provides essential nutrients while minimizing the intake of the affected amino acids.
Branched Chain Ketoaciduria is an inherited condition, usually caused by mutations in genes that produce the enzymes needed for BCAA metabolism. It is inherited in an autosomal recessive manner, meaning both copies of the gene must be affected for the disorder to manifest. Genetic counseling may be recommended for affected families.
