When you determine that the infants disorder is due to the deficiency in ornithine transcarbamoylase, the lab values will also suggest (a) elevated levels of orotic acid.
When the male infant appears to be normal at birth, but then later on begins to develop lethargy, hypothermia and apnoea after 42 hours of delivery tests are conducted. If the reports show normal levels of blood glucose, blood pH as 7.45 but increased levels of blood ammonium and glutamine, it is determined that he has deficiency of ornithine transcarbamoylase.
To confirm these increased levels, we check the level of orotic acid and if the levels are elevated, then the diagnosis is confirmed. This diagnosis suggests that there is an impact on the urea cycle of the male infant.
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