Biochem notes Flashcards
1
Q
Orotic aciduria
A
Symptoms: neurological, FTT, hypochromatic megaloblastic anemia
Orotic aciduria due to defects in pyrimidine synthesis, which starts with carbamoyl phosphate synthetase II (RLS), which later becomes orotic acid.
Defect in orate phopshorylbosyl transferase, which converts orotic acid to UMP with PRPP. Thus accumulation of orotic acid in the body.
Treatment: uridine. This gets converted to UMP by nucleokinase and in turn inhibits carbamoyl phosphate synthetase II.
