Phenylketonuria is caused by amutation in the PAH gene. This is an inheritable disorder resulting in the inability to break down the amino acid phenylalanine. Excessive buildup of phenylalanine is toxic to the cells and can damage vital organs.

Medical Condition

• Intellectual disability
• Seizures
• Behavioral problems
• Psychiatric disorders
• Musty odor
• Lighter skin & hair color
• In Infants, Smaller head size, low weight & heart disorders
• In severe conditions, it may lead to brain damage

Genetic Changes

• The PAH gene provides instructional code for making the enzyme phenylalanine hydroxylase.
• Enzyme phenylalanine hydroxylase converts phenylalanine into another component in the body.
• Mutation of the PAH gene disrupts the enzyme production and the amino acid phenylalanine is not broken down effectively.
• Excessive amount of phenylalanine may cause brain damage and other complications

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%.