Recurrent Male Neonatal Deaths in a Heterozygous X-linked Ornithine Transcarbamylase Deficiency Carrier Pregnant Woman.

Abstract

Ornithine transcarbamylase (OTC) deficiency is the most common enzyme deficiency of the urea cycle which converts toxic ammonia to urea for its excretion from the body. Symptoms due to the deficiency of the enzyme results in accumulation of ammonium and glutamine in the body. This manifests as vomiting, lethargy, cerebral oedema and coma. In affected male babies born with the metabolic disorder, there is severe neonatal hyperammonaemia. Due to the rarity of the metabolic disorder, diagnosis is delayed with fatal consequences for the newborn. We report here a case of recurrent neonatal deaths in an asymptomatic mother heterozygous for X-linked OTC gene mutation.