Hereditary Hyperammonemia Flashcards
1
Q
Reason
A
insufficient urea cycle
alphaKG used for removal of ammonia -> TCA depleted -> low ATP level -> coma
2
Q
Treatment
A
- limited protein intake
- inhibition of bacterial ammonia release in colon
- administration of AA binding chemicals: benzoate, phenyl acetate
- replacing the missing intermediates
3
Q
Type 1
A
CP synthetase 1 deficiency
mental retardation
-Arg supplementation
4
Q
Type 2
A
ornithine transcarbamoylase deficiency
mental retardation, early death
orotic aciduria
5
Q
Other metabolic diseases
A
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