Branched Chain Ketoaciduria
Definition: Branched Chain Ketoaciduria is a rare genetic disorder characterized by the impaired ability of the body to break down certain amino acids, specifically valine, isoleucine, and leucine. This condition is caused by a deficiency of the enzyme Branched Chain Ketoacid Dehydrogenase (BCKD), which is responsible for metabolizing these amino acids. As a result, toxic byproducts called ketoacids accumulate in the blood, leading to a variety of symptoms and health complications.
Symptoms
The symptoms of Branched Chain Ketoaciduria can vary widely from person to person. Some common symptoms include:
- Poor feeding and inadequate weight gain in infants
- Vomiting
- Lethargy
- Developmental delays
- Difficulty walking or poor coordination
- Behavioral problems
Causes
Branched Chain Ketoaciduria is an autosomal recessive disorder, meaning it occurs when both parents pass down a mutated gene responsible for the disease. The condition is primarily caused by mutations in the genes that encode the BCKD enzyme.
Treatment
Treatment for Branched Chain Ketoaciduria typically involves a strict low-protein diet that limits intake of valine, isoleucine, and leucine, reducing the production of ketoacids. In some cases, specialized formulas or supplements may be necessary to maintain proper nutrition. Medications may also be prescribed to help manage the symptoms and prevent complications.
Regular monitoring of blood amino acid levels and ketoacid levels is essential to ensure the effectiveness of treatment and make adjustments as needed. Genetic counseling is often recommended for families affected by Branched Chain Ketoaciduria to understand the inheritance pattern and potential risks in future pregnancies.