As of the last year, I have known I had this condition. I had gotten a DNA test kit to find out where I was from, medical conditions, etc and I have a few questions about this metabolic disorder. My questions are:
- Is it possible to have multiple mutations in the ACADS gene?
- Is it possible to have symptoms of acute acidosis and the combination of muscle spasms, developmental delay, neurological impairment, and myopathies?
- certain diet information to avoid symptoms and in order to gain weight?
There are two common variants in the SCAD gene that are present in about 35% of the population. Therefore, many people with inactivating mutations often have them in combination with the common variants. Regardless, our current understanding of SCAD deficiency is that it does not cause clinical symptoms. Rather, it is simply a biochemical trait that can be compensated by other pathways in the cell. Given your symptoms, you should have a full evaluation by a metabolic specialist or a neurologist with a focus on these disorders. Additional testing needs to be performed to look for other causes of your medical problems. Hope this helps. Dr. Vockley