Case study- Hyperammonemia and Orotic aciduria

Question of the day

A newborn becomes lethargic and drowsy 24 hour after birth. Blood analysis shows hyperammonemia, coupled with Orotic aciduria. This individual has an enzyme deficiency that leads to an inability to directly produce which of the following?

A. Carbamoyl phosphate

B. Ornithine

C. Citrulline

D. Argininosuccinate

E. Arginine

Orotic acid


Figure- Structure of Orotic acid

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2 Responses

  1. Congenital deficiency of transcarbamoylase does not allow ornithine to take part in urea cycle.So synthesis of pyrimidine gives orotic acid in excess.This leads to hyperammonemia & orotic acid in urine.

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