https://usmleqa.com/?p=27401
Question: What is Ornithine transcarbamylase deficiency?
Answer: It is a common urea cycle disorder that interferes with the body’s ability to eliminate ammonia.Question: Is it an Xlinked recessive disorder?
Answer: Yes, it is Xlinked recessive compared to other urea cycle enzyme deficiencies which are autosomal recessive.Question: When is Ornithine transcarbamylase deficiency often evident?
Answer: It is often evident in the first few days of life but may present later.Question: What happens to excess carbamoyl phosphate in Ornithine transcarbamylase deficiency?
Answer: It is converted to orotic acid which is a part of the pyrimidine synthesis pathway.Question: What are the findings in Ornithine transcarbamylase deficiency?
Answer: The findings include orotic acid in blood and urine, BUN, and symptoms of hyperammonemia. No megaloblastic anemia occurs as in orotic aciduria. Question: What is the difference between Ornithine transcarbamylase deficiency and orotic aciduria?
Answer: Ornithine transcarbamylase deficiency does not cause megaloblastic anemia, unlike orotic aciduria.Question: How does Ornithine transcarbamylase deficiency affect the body?
Answer: It interferes with the body's ability to eliminate ammonia.Question: Is Ornithine transcarbamylase deficiency a common urea cycle disorder?
Answer: Yes, it is the most common urea cycle disorder.Question: What is the mode of inheritance of Ornithine transcarbamylase deficiency?
Answer: It is Xlinked recessive.Question: What are the symptoms of Ornithine transcarbamylase deficiency?
Answer: The symptoms include orotic acid in blood and urine, BUN, and symptoms of hyperammonemia. Question: Is Ornithine transcarbamylase deficiency evident in all newborns?
Answer: No, it may not be evident in all newborns, but it is often evident in the first few days of life.Question: What is the significance of orotic acid in Ornithine transcarbamylase deficiency?
Answer: Orotic acid is a result of the conversion of excess carbamoyl phosphate and is a sign of Ornithine transcarbamylase deficiency.Question: What is BUN and why is it significant in Ornithine transcarbamylase deficiency?
Answer: BUN is blood urea nitrogen, and it is a sign of hyperammonemia, which is a symptom of Ornithine transcarbamylase deficiency.Question: Why does megaloblastic anemia not occur in Ornithine transcarbamylase deficiency?
Answer: Unlike orotic aciduria, megaloblastic anemia does not occur in Ornithine transcarbamylase deficiency.tab