While some patients with UCD are diagnosed as neonates, others may be diagnosed as infants, children or even adults (late onset disease).
History:
(1) history of unexplained encephalopathy or coma
(2) history of encephalopathy associated with a protein load
(3) history of pregnancy-related or postpartum encephalopathy
(4) history of Reye's syndrome
(5) family history of urea cycle disorder
(6) family history of unexplained infant death
(7) history of protein avoidance
Signs and symptoms with neonatal onset:
(1) hypothermia
(2) lethargy
(3) vomiting
(4) failure to feed
(5) coma
Signs and symptoms:
(1) seizures
(2) apnea
(3) cyclic somnolence and lethargy
(4) unexplained mental retardation
(5) cyclic vomiting
(6) episodic extreme irritability or agitation
(7) unexplained amblyopia
(8) developmental delay
(9) ataxia
Laboratory findings:
(1) elevated plasma ammonia or glutamate
(2) low serum BUN (blood urea nitrogen)
A patient with findings suggestive of a urea cycle disorder should not receive valproate for seizure control.
