Maple syrup urine disease is caused by amutation in the BCKDHA, BCKDHB & DBT genes. This is a genetically inherited disorder. Individuals suffering from this disease cannot process amino acids properly. Amino acids are building blocks of proteins. It is characterized by asweet odor of urine.
No specific treatment as it is a genetic disorder with high morbidity.
At Aaranya Biosciences we use Next Generation Sequencing (NGS) to analyze single gene disorders. Our screening test with NGS has an accuracy of 99%.