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Questions and Answers
Which enzyme deficiency leads to failure to synthesize urea and hyperammonemia during the first week after birth?
Which enzyme deficiency leads to failure to synthesize urea and hyperammonemia during the first week after birth?
What is the toxic substance especially to the central nervous system in the context of urea cycle deficiency?
What is the toxic substance especially to the central nervous system in the context of urea cycle deficiency?
What combination of symptoms suggests a defect in the urea cycle?
What combination of symptoms suggests a defect in the urea cycle?
What symptoms typically appear during the 24 to 72-hour postnatal period if there is a defect in the urea cycle?
What symptoms typically appear during the 24 to 72-hour postnatal period if there is a defect in the urea cycle?
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What mechanism of ammonia intoxication leads to brain edema?
What mechanism of ammonia intoxication leads to brain edema?
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Study Notes
Urea Cycle Deficiency
- Ornithine transcarbamylase (OTC) deficiency leads to failure to synthesize urea and hyperammonemia during the first week after birth.
Toxic Substance
- Ammonia is especially toxic to the central nervous system in the context of urea cycle deficiency.
Symptoms of Urea Cycle Defect
- A combination of symptoms suggesting a defect in the urea cycle includes lethargy, vomiting, hypotonia, and seizures.
Symptoms in Newborns
- Symptoms typically appear during the 24 to 72-hour postnatal period if there is a defect in the urea cycle, including lethargy, vomiting, and seizures.
Ammonia Intoxication
- The mechanism of ammonia intoxication leading to brain edema is due to the production of glutamine in the brain.
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Description
Test your knowledge about urea cycle enzyme deficiencies and their impact on urea synthesis and ammonia levels in the body, especially in infants.
