After we got Anthony’s 23andMe results and had our appointment with Dr. Sletten, we discussed Anthony’s heterozygeous ACAT mutation.
What is a ACAT mutation, and what happens when someone has an ACAT mutation?
According to the book “Autism – Pathways To Recovery”
“ACAT 102 (acetyl coenzyme A acetyltranserase):
Many times, an ACAT mutation and mitochondrial dysfunction go hand and hand.
ACAT plays a key roll in fat metabolism and energy conversion. If this is out of sync it can result in many forms. One being mitochondrial dysfunction. Other signs of a ACAT mutation can be, floating stool, keratosis pilaris (bumps on arms/legs), which my daughter has, and cradle cap. Anthony had this BAD as a baby.
Cytotine is a “Medical Food that improves Adenosine Triphosphate (ATP) production / energy production in the human body. This liquid medical food formulation is designed to:
- Increase Energy – Cytotine is converted in the body to phosphocreatine (an anaerobic pre-cursor to ATP). This Medical Food generates extra energy (ATP) in individuals with mitochondrial disorders.
- Eliminate toxic metabolites – Will not convert to the toxic by-product (creatinine) as seen in regular OTC supplements (United States Patent # 6,399,661†)
Now for the technical terms. =-)
“The body’s creatine kinase (CK) system — one of a number of unique systems responsible for providing energy to living cells. The CK sytem is designed to deliver energy to those tissues that have sudden and/or high energy demands such as the brain, skeletal muscles and heart.
The CK system converts creatine to phosphocreatine, which, in turn, transforms adenosine diphosphate (ADP) to adenosine triphosphate (ATP). This enzymatic transformation occurs in the mitochondria where ATP then exits the mitochondria and is used to meet the immediate energy needs of the cell.”
So when your child has mitochondrial dysfunction, this process is not running efficiently. And with an ACAT mutation, the body also has trouble digesting and metabolizing fats. The body is working 10% as hard as it needs to be. Which probably leads to reason why Anthony is so skinny, and yet eats more than my husband. =-)
It’s interesting. The further and further I fell down the biomed rabbit hole, I saw more and more that Anthony did not “simply” have autism. He had multiple health conditions/gene mutations. And like Warrior Mother MaryAnn refers to so perfectly, this created a huge knot, that started affecting/creating more and more issues.