Adenosine Deaminase (Ada) Deficiency

ADA Deficiency is characterized by severe combined immunodeficiency also known as SCID. The deficiency is caused by a single point mutation in the ADA gene. Individuals with ADA are prone to all sorts of infections.

Medical Condition

• Bacterial, Viral & Fungal Infections
• Chronic diarrhea
• Pneumonia
• Skin rashes & allergy
• Delayed development
• Chronic lung disease
• Malnutrition

Genetic Changes

• ADA gene provides instructions for producing the Adenosine deaminase enzyme
• Adenosine Deaminase breaks down a molecule called deoxyadenosine which can be toxic to white blood cells (WBC) if not controlled
• Mutation of ADA gene causes buildup of the deoxyadenosine which leads to destruction of the WBCs

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%.