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what are the genetic defects in urea cycle?
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A blockage of carbamoyl phosphate synthesis or any of the 4
steps of urea cycle has serious consequences because there
is no alternate pathway for synthesis of urea.
They all lead to an elevated level of NH4 ion in blood
(HYPER AMMONEMIA)SOME OF GENETIC DEFECTS BECOME EVIDENT
AFTER A DAY OR TWO AFTER BIRTH.
infant becomes lethargic and becomes periodically.
High levels of NH4 ion are toxic because elevated levels of
glutamine lead directly to brain damage.
alpha -ketoglutarate-.glutamate->glutamine
people cannot tolerate protein rich diet because aminoacids
ingested in excess would be deaminated in liver producing
free ammonia in blood which is toxic to humans.
people with defects in urea cycle treated by substituting
in diet alpha-keto acid analogues of essential aminoacids.
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