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Kaplan Qbank USMLE



Author10 Posts
  #1

A child is brought by his mother because of failure to thrive.
Clinical findings; retarded growth and development, megaloblastic anemia ……..
Your colleague hints you this is compatible with the diagnosis of orotic aciduria
What is the enzyme defect in orotic aciduria?

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if you haven't any charity in your heart, you have the worst kind of heart trouble.

  #2

thymidylate synthase--

  #3

otc ornithine transcarbamoylase

  #4

ornithine Transcarbamoylase deficiency would not cause megaloblastic anemia

  #5

UMP Synthase is deficient and megaloblastic anaemia is also seen.

  #6

yes it is UMP SYNTHASE DEFICIENCY....associated with orotic aciduria and megaloblastic anemia...good q

  #7

where does ump synthestase acts?cant place it :roll:

  #8

Acts in pyrimidine synthesis. known as uridine monophosphate. synthase and is a combination osf OMP decarboxylase and orotate phosphoribosyl transferase..... lippincot biochemistry

  #9

okk. i never thot thts an imp enzyme , its just given orotic acid-to UMP in kaplan.


wht r rate limiting enzymes for pyramidine n purine synthesis?

  #10

"bobby" wrote:
A child is brought by his mother because of failure to thrive.
Clinical findings; retarded growth and development, megaloblastic anemia ……..
Your colleague hints you this is compatible with the diagnosis of orotic aciduria
What is the enzyme defect in orotic aciduria?



nobody got the answer.

enzyme defect is; orotidylic (omp) decarboxylase deficiency or orotate phosphoribosyl transferase




and what will you give for treatment?

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