Autosomal Recessive Inherited Defects of the Urea Cycle

Question 1

H.A. type ONE
Defective enzyme :
Products accumulated:

Answer 1

CPS-1

NH4+,gln, ala

Question 2

H.A. type II
Defective enzyme :
Products accumulated:

Answer 2

Ornithine transcarbamoylase

NH4+, gln, orotic acid

Question 3

Citrullinemia
Defective enzyme :
Products accumulated:

Answer 3

Argininosuccinate synthetase

Citrulline (blood values)

Question 4

Arginosuccinic aciduria
Defective enzyme :
Products accumulated:

Answer 4

Argininosuccinate lyase

Argininosuccinate

Question 5

Argininemia
Defective enzyme :
Products accumulated:

Answer 5

Arginase

Arginine