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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