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Homocystinuria

What is Homocystinuria?

Homocystinuria is a rare genetic disorder affecting the metabolism of the amino acid methionine.

 

Homocystinuria is a rare genetic disorder affecting the metabolism of the amino acid methionine.
Acknowledgement of Homocystinuria has not been added yet.
0.4http://www.orpha.net
Synonyms for Homocystinuria has not been added yet.
Cause of Homocystinuria has not been added yet.
Symptoms for Homocystinuria has not been added yet.
Diagnosis of Homocystinuria has not been added yet.
Diagnostic tests of Homocystinuria has not been added yet
Treatments of Homocystinuria has not been added yet.
Prognosis of Homocystinuria has not been added yet.
Tips or Suggestions of Homocystinuria has not been added yet.
References of Homocystinuria has not been added yet.
A rare HCU patient Created by Zebradots13
Last updated 3 Feb 2013, 09:17 AM

Posted by Zebradots13
3 Feb 2013, 09:17 AM

I'm one of the oldest documented cases of Homocystinuria (HCU) --I'm 45 years old. I have have CBS enzyme deficiency but have no manifestation of the disorder (only detected by blood tests). My older brother (3 yrs older) has the classical symptoms but fortunate for both of us we were also the first documented cases in the 1970s to respond positively to B6. Recently I also have been diagnosed with Familial Mediterranean Fever

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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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A rare HCU patient

Created by Zebradots13 | Last updated 3 Feb 2013, 09:17 AM


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