Diseases in three words

Thymidylate synthase (ThS) is such an important enzyme and we give it so little credit in the pursuit of gloryfying Pyruvate Kinase, et al. ThS is inhibited by 5-fluorouracil (5-FU), an anticancer drug. ThS produces dTMP (as you can see in the graph) from dUMP. The small d is for the reduced form of UMP, which is made by another important enzyme Ribonucleotide Reductase (UMP to dUMP). And, where does the UMP come from? A sexy molecule calledOrotic acid.
Inability to convert orotic acid to UMP produces failure to thrive in the neonatal period, no hyperammonemia (which distinguishes it from OTC deficiency) and … the almost always forgotten megaloblastic anemia. Of course, increased orotic acid as well. So, orotic acidemia, in three words:
Failure to thrive
Megaloblastic anemia that doesn’t respond to vit B12 supplementation (or folic acid)
No hyperammonemia

Thymidylate synthase (ThS) is such an important enzyme and we give it so little credit in the pursuit of gloryfying Pyruvate Kinase, et al. ThS is inhibited by 5-fluorouracil (5-FU), an anticancer drug. ThS produces dTMP (as you can see in the graph) from dUMP. The small d is for the reduced form of UMP, which is made by another important enzyme Ribonucleotide Reductase (UMP to dUMP). And, where does the UMP come from? A sexy molecule calledOrotic acid.

Inability to convert orotic acid to UMP produces failure to thrive in the neonatal period, no hyperammonemia (which distinguishes it from OTC deficiency) and … the almost always forgotten megaloblastic anemia. Of course, increased orotic acid as well. So, orotic acidemia, in three words:

  1. Failure to thrive
  2. Megaloblastic anemia that doesn’t respond to vit B12 supplementation (or folic acid)
  3. No hyperammonemia

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