Question

What happens if a deficiency of the enzyme that catalyzes the synthesis of N- acetylglutamate is detected?

Answer 1

Normally N- acetylglutamate termed as LIVER enzyme,which is responsible for Orinithine cycle(urea cylcle) and it is synthesized by N- acetylglutamate synthase.

N -acetylglumate synthase, synthesized the production of N-acetyl glutamate with the binding of acetyl coA and L- glutamate.

If the deficiency of enzyme detected for N- acetyl glutamate synthase means no production of N- acetylglutamate...which directly link with the Urea cycle.It results into the high accumulation of ammonia into blood additionally ammonia is not able to converted into urea.

It also responsible for autosomal recessive Urea cycle disorder also called as hyperammonemia disease.