jueves, 13 de junio de 2013
Autosomal recessive condition where there's a defect in the enzyme Orotate Phosphoribosyltransferase or Orotidine 5'-phosphate descarboxylase.
The abnormal functioning of either of these enzymes promotes the accumulation of Orotic Acid. This is important cause Orotate is the precursor of the Novo synthesis of Pyrimidines, process where it converts to UMP (Uridine Monophosphate)
The findings are:
- High levels of Orotic Acid in the urine.
- Megaloblastic Anemia (non responsive to administration of B12 nor Folic Acid).
- Failure to thrive.
- NO hyperammonemia (feature that makes the distinction between OTC deficiency and this condition)
(*You guys should investigate a bit about OTC deficiency and find out what's going on there*).
The treatment is as simple as it gets, oral administration of URIDINE. So you're basically just going over that step.