I Have Homocystinuria

A Homocystinuria anonymous support group with information on diagnosis, treatment, symptoms, along with personal stories and experiences with Homocystinuria. You're not alone. 9 People

    Living With A Rare Disorder

    Homocystinuria is a rare genetic metabolic  disorder  caused by amissing enzyme that would normally help in the breakdown of protein in the blood. Because of missing this enzyme, people with Homocystinuria, have to be on a low-protein diet,, and also a special vitamin...
    snowlady snowlady
    36-40, F
    1 Response Dec 8, 2009

    My Baby Was Diagnosed With Homocystinuria 2012

    We had our baby on may 15, 2012. She had a negative newborn screening. When they did the 2 weeks screening she tested positive for homocystinuria. We then got sent to a specialist and they confirmed it. We are in shock. We have a 2 and 3 year old that are perfectly healthy. The...
    Ho512 Ho512
    4 Responses Jun 27, 2012

    Metabolic Disorder

    My daugther is a case of homocystinuria and I want any idee about her diagnosis and treatment she lost an eye ,she is very tall as us ,she make a diet very difficult  and I am very afraid about her 
    zahramother zahramother
    5 Responses Jul 8, 2009

    Hi I Was Diagnosed At 2.5 Years With Homocystinuria

    I am now 33 and living a pretty ordinary life. I was diagnosed when the lens in my eye dislocated, lucky for me this slipped back in purely with eye drops.. I had been tested at birth but was not picked up , no test is fool proof ! My mum was told this was possibly as I was...
    spirit78 spirit78
    Nov 21, 2012


    I was diagnosed with homocystinuria when I was 16. Now I am 45. I would love to communicate with people that have this disorder also. I have had to have multiple eye surgeries, but am able to see thanks to a wonderful eye surgeon. I am able to work at a full time job and lead a...
    darkcoco6 darkcoco6
    41-45, F
    Oct 8, 2012


    I am a 50 year old woman with homocystinuria it has effected my vision and i have a slight heart defect and woul like contact with other people with my condition
    lindascard lindascard
    Mar 21, 2012
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