Journal of Rare Disorders: Diagnosis & Therapy

UCD Case Report: Glycerol Phenylbutyrate in the Management of Female Patients with Ornithine Transcarbamylase Deficiency

Context: Urea Cycle Disorders (UCDs) are rare inborn errors of metabolism resulting from a defect in one of the urea cycle enzymes. Patients with UCDs are unable to detoxify ammonia and convert it into urea properly, which can result in toxic levels of ammonia building up in the blood. Ornithine Transcarbamylase (OTC) deficiency is the most common UCD. If OTC deficiency is not adequately treated, it can lead to hyperammonemic crises which can be lifethreatening, regardless of the age or overall health of the patient.

Case report: This case report outlines clinical and biochemical observations of four unrelated Canadian females with OTC deficiency, with a focus on observations 12 months before, and 12 months after their ammoniascavenging therapy was switched to glycerol phenylbutyrate. Following the switch to glycerol phenylbutyrate, each patient in the study experienced a mild reduction in mean ammonia levels, fewer hospitalizations, and improved quality of life and adherence to ammonia-scavenging therapy.

Conclusion: More patients would need to be included in the study and for longer period of time, in order to make a more meaningful outcomes statement. As clinical experience in the management of OTC-deficient female patients continues, these cases suggest the importance of early and effective ammonia control using glycerol phenylbutyrate.

Author(s): Sharan Goobie, Gabriella Horvath and Shailly Jain-Ghai

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