Ornithine transcarbamolase deficiency. Carbomoyl phosphate (CP) is shunted to pyrimidine synthesis --> increased orotic acid production (CPS you would not see orotic acidemia). Urea cycle also inhibited --> increased ammonia levels.
savethewhalesSidenote, OTC deficiency is the only X-linked recessive urea cycle deficiency (all others are autosomal recessive) and it's the most common+5
submitted by trazabone(16)
Ornithine transcarbamolase deficiency. Carbomoyl phosphate (CP) is shunted to pyrimidine synthesis --> increased orotic acid production (CPS you would not see orotic acidemia). Urea cycle also inhibited --> increased ammonia levels.