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Argininosuccinic Acid Synthetase Deficiency (Citrullinemia) (AS)

This acute illness protocol is a guideline for healthcare professionals treating the sick infant/child who has previously been diagnosed with citrullinemia, a urea cycle defect (UCD). Citrullinemia is also known as argininosuccinate synthetase deficiency (AS). The protocol was developed at Boston Children’s Hospital under the direction of Dr. Harvey Levy, Senior Physician in Medicine/Genetics and Dr. Jonathan Picker, Fragile X Program Director.

Hyperammonemic crises in infants/children with UCD are medical emergencies and must be treated as such to avoid death or serious brain injury.

PDF Click to view the complete protocol as a PDF

The care of patients with metabolic disorders is complex and it is essential that a metabolic specialist be contacted as rapidly as possible. This protocol is only a guideline and should not be used for definitive treatment without metabolic consultation.
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