Childhood Diseases

Posted by: MICHEL GROENEWALD | 2011-09-29



A relatives baby was born with a urea disorder called otc is there any pediatrician in South Africa that can treat babys with genetic disorders other than goverment hopsitals Please help us

Expert's Reply



Your relative's paediatrician has made an excellent diagnosis. OTC [ornthine transcarbamylase deficiency] is a rare genetic disorder of the urea cycle leading to the accumulation of toxic ammonia in the blood stream.This is a serious disorder in newborn infants and can lead to brain damage. It is essential to reduce protein intake in the diet whch is possible these days by using amino acid formulas and special feeding techniques. A geneticist is not the correct specialist to treat your friend's baby. Their really excellent paediatrician will direct them to the correct specialist in the region.

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