Alternatively, hemodialysis usually is effective in bringing down the ammonia level, especially with the initial presentation. Exchange transfusion is ineffective and not generally recommended. Maintaining as high of an energy intake as possible is important. Some patients have done well using this regimen. Whether or not PO sodium phenylbutyrate is helpful in this condition is unclear.
NAGS deficiency is an extremely rare disorder with complex treatment.
Contact these consultants by telephone if they are not available locally. A low-protein diet generally is recommended with dietary supervision under the direction of a dietitian experienced in the care of patients with metabolic disease. Possible complications include cerebral edema with resulting brain damage or death. Family counseling Inform parents of their obligate heterozygote status given the likelihood that this is an autosomal recessive trait. Advise parents to seek early medical attention for the patient in the event of intercurrent illness.