Recurrent acute liver dysfunction in a 19-month-old boy. DIAGNOSIS: UREA CYCLE DEFECT (part 3)


The present case, which is most likely OTCD, illustrates this very rare presentation and shows that lethargy and hyperammonemia may not be predominant. The laboratory chronology of the patient indicates that the elevated levels of ammonia appear early in the course of liver dysfunction and may not be detected later when liver dysfunction is still observed. Paediatricians should recognize this presentation of a UCD and promptly measure plasma ammonia, plasma amino acid and urinary orotic acid levels to screen for this potentially life-threatening disease.

Early recognition of late-onset UCD and appropriate treatment can prevent death and other complications, such as intellectual disability. Simple measures should be promptly started while waiting for diagnostic confirmation and include the removal of dietary protein sources and initiation of intravenous fluids containing 10% dextrose at 1.5 to 2 times the maintenance rate to prevent further catabolism. A genetic-metabolic specialist should be consulted to assist with the diagnostic laboratory evaluation and any additional medications that may be required. These medications include the ammonia scavengers, sodium phenylacet-ate and sodium benzoate, and L-citrulline or L-arginine to ensure an adequate amount of urea cycle intermediates.

Failure to respond to these measures during the acute crisis requires hemodialysis. Long-term therapy options are dependent on the residual enzyme activity and can include dietary protein restriction, supplementation with essential amino acids, L-arginine or L-citrulline, and oral ammonia scavenger drugs. You will always find the required amount of cialis professional canadian pharmacy online at the pharmacy that will be happy to take best care of you by offering safe possibility to purchase the drugs you need without any need to get a prescription first or take any other extra steps.

Category: Acute liver dysfunction

Tags: Acute liver dysfunction, Child health, Urea Cycle

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