Hereditary Hyperammonemia

Question 1

Reason

Answer 1

insufficient urea cycle

alphaKG used for removal of ammonia -> TCA depleted -> low ATP level -> coma

Question 2

Treatment

Answer 2

1. limited protein intake
2. inhibition of bacterial ammonia release in colon
3. administration of AA binding chemicals: benzoate, phenyl acetate
4. replacing the missing intermediates

Question 3

Type 1

Answer 3

CP synthetase 1 deficiency
mental retardation
-Arg supplementation

Question 4

Type 2

Answer 4

ornithine transcarbamoylase deficiency
mental retardation, early death
orotic aciduria

Question 5

Other metabolic diseases

Answer 5

Arginosuccinate synthetase deficiency:
-citrullinemia
-Arg supplementation
Arginosuccinate lyase deficiency:
-arginosuccinate excretion
-Arg supplementation
Arginase deficiency:
-high Arg level
-abnormalities in development of CNS
-Arg free diet