Maple Syrup Urine disease(MSUD)

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.

Medical Condition

• Lethargy
• Vomiting
• Seizures
• Coma
• Sweet urine odor
• Developmental delays in infants

Genetic Changes

• BCKDHA, BCKDHB & DBT genes work together in making a protein complex which is essential in the breakdown of amino acids especially leucine, Isoleucine & Valine
• Mutation of these genes affects the breakdown of these amino acids
• High levels of amino acid accumulation prove toxic to the brain and cause serious health problems

Treatment

No specific treatment as it is a genetic disorder with high morbidity.

• Bone Marrow transplantation
• Blood transfusion
• Enzyme replacement therapy
• Gene therapy

Solution

• Genetic screening can identify single gene disorders
• Early prognosis can prevent such diseases
• Remedial & personalized medicine can change the outcome
• Doctors can suggest alternatives for couples planning pregnancy

More information

At Aaranya Biosciences we use Next Generation Sequencing (NGS) to analyze single gene disorders. Our screening test with NGS has an accuracy of 99%.