- Etiology: X-linked dominant; hemizygote males more severely affected than
- neonatal period – brain dysfunction, vomiting, tachypnea, lethargy, coma.
- milder forms (especially in females) may have episodic manifestations
- episodes triggered by high-protein diet or times of stress/infection
Treatment: goal is to remove ammonia from the body (e.g. use of sodium
benzoate, sodium phenylacetate) and provide adequate calories and essential amino acids to halt
further breakdown of endogenous proteins.
CHLA Board Review 2005