Genetics of Autism/AS, link to Poryphyria?

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azurezebu
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16 Apr 2009, 2:02 pm

Hi, I have pondering a great many things recently, especially the genetic origins of Autism/AS.

One of the more interesting genetic notes that I have found is the potential link between the genes that are associated with Autism, depression, and inherited autoimmune disorders, especially for individuals of northern European decent (Swedish, Scandinavian) with potential link to the Sami ethnic group (reindeer herders). Within this population there are higher incidences of Porphyria related genetic disorders. Just for clarification, porphyria can manifest in a variety of ways beyond the vampire-esque stereotype and can include those that suffer from accute abdominal pain episodes, photosensitivity, or those with an increased chemical sensitivity towards barbitutates, sulfonamide antibiotics, anticonvulsants, alcohol, and hormone related drugs for birth control. Folks can have the gene associated but without the symptoms roughly 90% of the time. Recently there has been some literature trying to link porphyria with environmental chemicals like mercury, but for right now I am more interested in those with the genetic origins.

Has anyone else heard of this connection?

Any been diagnosed, or have a family connection, with Porphyria related disorders?



Marcia
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16 Apr 2009, 2:29 pm

Interesting.

I had wondered some time ago if my husband had porphyria - I told him about it, and showed him information I'd found which seemed to match his symptoms, but he wasn't interested and didn't take it any further.

My husband reacts very badly to alcohol, as do many of his family members. He suffers intense pain, vomits over a period of around twelve hours, and frequently complains of tiredness, sore joints etc.

Our son is diagnosed with Asperger's and I would guess that my husband may be on the Spectrum, as one of his nephews may be also.

Migraines are also common in his family.