Pathology Flashcards
How to differentiate between B12 and folate deficiency
B12 deficiency has increased methylmalonic acid
Why does protein aciduria occur
Orotic acid not able to convert to UMP
Due to defiance of UMP synthetase
How to differentiate between orotic aciduria and ornithina transcarbamoyl deficiency?
Orotic aciduria has orotic acid in urine with no hyperammonemia
The latter has hyperammonemia
Treatment of orotic aciduria
Uridine monophosphate or uridine triacetate
Diamond blackfan deficiency is what type of anemia
Non megaloblastic macrocyclic anemia
Presentation of diamond blackfan
Pure red cell aplasia
Anemia onset within 1st year of life
Total hb in blackfan
Decreased but HBF is increased
What is the cause of aplastic anemia
Reduce Volume From Inside Diaphysis
Radiation
Virus - EBV PARVOVIRUS
Fanconi anemia
Idiopathic
Drugs - alkylation agents, chloramphenicol, benzene