advertisement

Childhood-diseases

Question
Posted by: MATUREWOMAN | 2008/01/31

Q.

OTC DEFICIENCY

Please help me clear up some misconceptions I have about the above illness (OTC). I lost a grandson (neonatal stage) 4 years ago to this illness. My daughter is now pregnant again and going though the motions to verify sex and then do a amnio to test for OTC, however on her visits it was mentioned that I had lost a son 22 years ago (also neonatal 5 days after birth), diagnosis was SIDS (Sudden infant death syndrome).
The doctors are now telling her that the possibility of my son also dying from OTC is great as my daughter is a carrier and I may be one too.
I did breast feed where my daughter did not. Would that have made any difference to the infant?
I have blamed myself for the death of my son for all these years, I need to now get closure on this and know the actual diagnosis.
Do you know what blood test would cost to determine if I am indeed a carrier of OTC.
Regards.

Expert's Reply

A.

Paediatrician

You are almost certainly a carrier of OTC.Babies don't die at 5 days of age from SIDS.Only male infants are affected by OTC and females are the carriers of the gene for this condition.You need to be tested at the Genetics department of a University teaching hospital. There are these departments in Joburg, Cape Town, Durban and Pretoria. The test will not cost you anything as far as I am aware.
Whether your baby son is breast fed or not the outcome is the same and unfortunately this is a lethal genetic condition affecting male infants.

The information provided does not constitute a diagnosis of your condition. You should consult a medical practitioner or other appropriate health care professional for a physical exmanication, diagnosis and formal advice. Health24 and the expert accept no responsibility or liability for any damage or personal harm you may suffer resulting from making use of this content.

Want to comment?

Thanks for commenting! Your comment will appear on the site shortly.
Thanks for commenting! Your comment will appear on the site shortly.