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Forum Name: Endocrinology Topics

Question: Alcaptonuria Ochronosis and mood swings


 lmb - Mon Dec 31, 2007 1:33 pm

Hello,
My husband has Alcaptonuria (I hope I spelled that correctly). I know that individuals with Alcaptonuria have a problem processing Tyrosene. I know that he has particular difficulty with dairy, beef and gluten items (though I know that other items have tyrosene as well). He also seems to have mood swings when he is off his diet. Because he has trouble processing tyrosene could he have difficulty creating dopamine or other similar hormones? Also, how does this affect his processing of gluten and casein? 2 days after he eats cheese or dairy, he smells like cheese or dairy. It is like he is sweating it out of his system. Any information you could give me would be great.
 Dr. Chan Lowe - Sat Feb 02, 2008 1:58 am

User avatar Hello lmb,

Alcaptonuria is a rare genetic condition where the body is not able to break down phenylalanine or tyrosine (two of the amino acids). The result is an accumulation of one of the intermediate compounds known as homogentistic acid builds up and is excreted in the urine. The result is that the urine turns black.

It is generally considered a relatively harmless disease, although the initial reports of the disease describe significant arthritis that occurs with it. In addition, kidney stones have been reported as well.

The pathway that involves the creation of dopamine is a separate pathway that should not be affected, to my knowledge. Similarly, it should not interfere with the processing of foods with the exception of breaking down the phenylalanine and tyrosine in the foods.

I am not knowledgeable enough of this disease to comment about the issues with dairy that your husband is having. You may want to see a geneticist about this. If possible, seeing a geneticist that specializes in metabolic diseases will likely be able to give you the best information.

Best wishes. I hope this helps some.

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