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Urea cycle disorders can become apparent at many different stages in life.
Emergency management of urea cycle disorders includes intravenous ammonia-scavenging medications and hemodialysis to decrease the blood ammonia level.
Urea cycle disorders affect about one in every 8,200 people, but the diagnosis is often missed or delayed.
Behavioural treatments for sleep wake cycle disorders, sleeplessness, parasomnias and excessive sleepiness are reported.
Phenylacetate ingestion has been used to probe Krebs cycle metabolism and to augment waste nitrogen excretion in urea cycle disorders.
"Historically, the prognosis for patients with urea cycle disorders has been universally poor," said Gregory Enns, MD, director of the biochemical genetics program at Packard Children's.
Sodium phenylacetate and sodium benzoate are marketed for the treatment of urea cycle disorders by Ucyclyd Pharma under the trade name Ammonul.
Metabolic disease expert Saul Brusilow, MD, at Johns Hopkins Childrenn's Center, pioneered the drug combination in the 1970s as a possible treatment for urea cycle disorders.
Persons with urea cycle disorders are at risk for recurrent crises with elevated ammonia levels, especially during times of infection; untreated or repeated episodes of high ammonia levels may cause intellectual disability and developmental impairment.
Although the survival of patients who have urea cycle disorders has improved with the use of modalities such as alternative pathway therapy and hemodialysis, neurologic outcome is suboptimal.
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The experience has left him with a soft spot for developmentally disabled children, which is how he has become one of the world's foremost experts in urea-cycle disorders, among them OTC deficiency.
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