Chromosomal issue that presents like autism

DS is dx with autism and has attentional issues. We went to a neurologist just to see what other measures we can rule out before medication. She had DS do blood work for chromosomal issues.

she called me today to say that his fatty acids were elevated and she mentioned a possible diagnosis, but I can not remember what she said.

She referred us to a genetic metabolic MD.

Does anyone know what this disorder could be called?

Re: Chromosomal issue that presents like autism

I am not familiar with the chromosomal disorders, but just wanted to let you know that elevated fatty acids is very common in autism. As people with ASD tend to have snps (single nucleotide polymorphisms) in their genes, which affects their methylation/detoxification systems. This is different than a chromosomal disorder. These snps can be bypassed with nutrients. Mitochondria dysfunction is a big factor with many on the spectrum. L-carnitine is a transporter of fatty acids into the mitochondria, and deficiencies in it can result in more oxidated fatty acids. Many kids on the spectrum who are being treated biomedically take what they consider a Mito cocktail. Dr Frye and Dr Rossignol have done research in this area. Let me know if you need any information on this.

ETA studies
http://www.mitoaction.org/autism/january-2014-teleconference

Message edited 5/23/2015 9:46:28 AM.

Re: Chromosomal issue that presents like autism

Did they mention Fragile X? DH presents with attentional issues and some of the soft signs of autism (no autism diagnosis) and I had him screened for this. (he was negative)