genetic
Ornithine transcarbamylase deficiency
Ornithine transcarbamylase also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase, the defective in this disorder, is the final enzyme in the portion of the urea cycle, responsible for converting carbamoyl phosphate and ornithine into citrulline. OTC deficiency is inherited in an manner, meaning males are more commonly affected than females.
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Symptoms — what it feels like
- ·Tachypnea, vomiting, lethargy, loss of appetite, early morning headaches, and confusion.
Causes — why it happens
- · .
How it's found
- ·Liver function tests, testing, and a liver .
Treatment
- ·Hydration, arginine, and hemodialysis.
Complications
- ·Liver failure, severe hyperammonemic encephalopathy, coma, death, intellectual, and physical disabilities.
Outlook
- ·50% of infants with OTC die.
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