Summarty:
Citrullinemia type I (CTLN1) is an inherited urea cycle
disorder where the enzyme argininosuccinate synthetase is
deficient. It can lead to recurrent hyperammonemic crisis
that may result in permanent neurological sequelae, even
death. Vomiting in patients with urea cycle disorders may
either be the result or cause of acute hyperammonemia,
particularly if due to an illness that leads to catabolism.
Therefore, age-appropriate common etiologies of vomiting
must be considered when evaluating these patients. We present
a case of a 2 year 5 month old female child with CTLN1 who
had a history of frequent vomiting after the age of one year
and some recent neurological manifestations like excessive
crying and lethargy and one episode of unconsciousness.
Investigations revealed high level of ammonia. Amino acid
profile using tandem mass spectrometry showed markedly
increased plasma level of citrulline. After administration of
sodium benzoate and protein restricted diet there was dramatic
improvement of all the symptoms.
(J Banagladesh Coll Phys Surg 2015; 33: 98-100)