Amino Acid Metabolism

Question 1

Argininosuccinate synthetase/argininosuccinase deficiency

Answer 1

Symptoms: usually benign- excrete high levels of citruilline/argininosuccinase respectively
Treatment: arginine supple to to replace arginine, allowing the cycle to continue

Question 2

Ornithine transcaebamoylase deficiency

Answer 2

Most common urea-cycle linked disease
X-linked
Mental retardation, death
Symptoms: raised ammonia and aa levels
Treatment: large quantities of benzoate and phenylacetate