Conference: inborn errors of the urea cycle Flashcards
1
Q
the three h’s HHH syndrome
A
HYPERammonemia, HYPERornothenemia, HOMOcitrullinuria
2
Q
krebs cycle side by side with urea cycle
A
krebs bicycle
3
Q
enzyme deficient of hyperammonemia type 1
A
carbamoyl phosphate synthetase 1
4
Q
enzyme deficient of citrullinemia
A
argininosuccinate synthase
5
Q
enzyme deficient in arginemia
A
arginase
6
Q
accumulation of carbamoyl phosphate where it condenses with aspartate to form orotic acid
A
orotic aciduria
7
Q
enzyme in hyperglutaminemia
A
glutamine sunthetase
8
Q
x linked recessive disorder
or termed “hyperammonemia type 2”
A
orntihine transcarbamoylase
9
Q
major reaction by which the brain detoxify ammonia
A
glutamine formation
10
Q
enzyme deficient in congeniral hyperammonia
A
ortithine transcarbamoylase
