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Date of last update: 10/17/2017.

Forum Name: Endocrinology Topics

Question: okay I have a question about homocystinuria


 kaelansmom19 - Tue Sep 14, 2004 9:13 pm

okay here goes

when I had my second child she was born premature and I was hospitalized two weeks before the c-section and they had to run a bunch of tests and they never said anything to me but I was going through my daughters discharge summary and it stated that I was carrying 2 gene mutations for homocystinuria but that I had normal homocystine levels so they ran a pku test on her and she was fine. I looked up homocystinuria on the internet to see what it was and how it affected me but it kept saying if you have one mutated gene than you are a carrier and if you have 2 than you have homocystinuria. but I don't have it so what does that mean? how can I have 2 mutated genes and not have homocystinuria? I have no symptoms. please help me I am really freaked out.
 Dr. Tamer Fouad - Wed Sep 15, 2004 1:31 am

User avatar Homocystinuria is an autosomal recessive disease. This means as you said that you have to have both genes mutated in order to express the symptoms. I would advise you to get back to your doctor and ask him/her specifically about your gene results.

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