Adenosine Deaminase ADA Deficiency- This disease is called Adenosine disease and is caused by a mutation on the or a gene on the chromosome. The codes of genes for an enzyme adenosine deaminase ADA, escorted without this certain enzyme, a body is unable to take down a very toxic(dangerous) that goes by the name deoxyadenosine.
How can you get his disease?(Adenosine Dreaminase Deficiency)
This disease or disorder is an autosomal recessive disorder, where 2 of the parents have to pass a copy of an defective gene or genes to their son/daughter children in a way that the child to inherit the deficiency.
What are the symptoms of ADA deficiency?
How does ADA deficiency the immune system? People that have this disease or this specific disorder are a lot more susceptible to all kinds of infections to partly those with the skin, respiratory system, and gastrointestinal tract. If they also be little bit smaller normal. Unfortunately, most babies who are born with this disease or disorder die within a few months.
How do Doctor diagnose or check for ADA Deficiency?
The way doctors can identify ADA deficiency is while the mom pregnancy is by taking a tiny small example of the tissue from the amniotic sacs where the babies can develop this thing called Chronic Villus Sampling or by seeing an enzyme levels on the fetal blood sample taken from umbilical cords. When the child is born, doctors can make tests a sample of their child blood to see if it contains ADA.
How is ADA deficiency treated?
At this moment there are no real cures for ADA, researchers have tried to restore levels o ADA and to improve immune system function with a various of treatments:
Transplantation for bone marrow is from a biological match(examples:, sibling) it provides healthy immune cells.
Red blood transfusions contain really high levels of ADA, they come from a healthy donor.
Replacement enzyme therapy, repeats injections for the ADA enzyme.
Their is Gene Therapy. What does it help with? it inserts synthetic DNA containing a normal ADA gene into immune cells,
Sites: https://ghr.nlm.nih.gov/condition/adenosine-deaminase-deficiency , https://rarediseases.info.nih.gov/diseases/5748/adenosine-deaminase-deficiency