My daughter does have the disorder. She was 7 days old when she was diagnosed. The docs say they caught it in enough time to where it didn't do any neurological damage. Her's was found through PKU screening done at birth. Her first 2 years of life she was in and out of the hospital with high ammonia levels and infections to her central line. In the past four years she's only been to the hospital for regular clinic appts. Neither myself or my husband has been genetically tested or my other 2 children. I ask about toxin exposure because I was exposed during my pregnancy. We are waiting to hear exactly which toxins and the amount of toxins exist where I was living. We went to clinic last week and i told her doc, but she says it's an "autosomal recessive pattern" and that it was caused from my husband and I, but she wants a list of those toxins. Well I have actually done some research on the computer and found that certain heavy toxins will bring about all kinds of ailments including rare illnesses. This disorder is still being studied. My daughter was actually Childrens Hospital Boston's first case. Anyhow, even though the docs say she suffered no brain damage, she does have a learning disability, and some behavioral issues, and she gets speech therapy. We all have to be checked now for toxins as myself and other 2 kids have some ailments going on that the docs don't know why. I will keep you posted on this. Best wishes for your son and God Bless