UCD outcomes can remain suboptimal, and morbidity can remain high1-3

Additional management options are clearly needed2,4

Available UCD treatment options are considered effective for managing ammonia, yet outcomes do not always reflect this.1 Lack of adherence due to various factors—including dosing regimens, tolerability issues, forgetting to take doses—continues to contribute to dangerous elevations in ammonia.2,4

A 17-member panel of metabolic, pediatric, and dietetic experts has indicated that addressing survival, cognitive, neurologic, and quality-of-life outcomes is critical when making decisions regarding UCD management.4 Improving clinical outcomes is a focus of continued research.3

As UCD research continues, additional treatment options that reduce adherence challenges may lead
to improved clinical outcomes in UCDs.3,5

As UCD research continues, additional treatment options that reduce adherence challenges may lead
to improved clinical outcomes in UCDs.3,5

Nutritionists and registered dieticians are integral part of the care team for patients with urea cycle disorders.

Are you a physician or registered dietitian?

We know you’re an integral member of the care team for patients with UCDs, so we invite you to sign up to get updates about UCDs and their treatment.

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Nutritionists and registered dieticians are integral part of the care team for patients with urea cycle disorders.

Are you a physician or registered dietitian?

We know you’re an integral member of the care team for patients with UCDs, so we invite you to sign up to get updates about UCDs and their treatment.

Sign Up

References

  1. Häberle J, Boddaert N, Burlina A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012;7:32.
  2. Shchelochkov OA, Dickinson K, Scharschmidt BF, Lee B, Marino M, Le Mons C. Barriers to drug adherence in the treatment of urea cycle disorders: assessment of patient, caregiver and provider perspectives. Mol Genet Metab Rep. 2016;8:43-47.
  3. Soria LR, Ah Mew N, Brunetti-Pierri N. Progress and challenges in development of new therapies for urea cycle disorders. Hum Mol Genet. 2019;28(R1):R42-R48.
  4. Häberle J, Burlina A, Chakrapani A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision. J Inherit Metab Dis. 2019;42(6):1192-1230.
  5. Kibleur Y, Guffon N. Long-term follow-up on a cohort temporary utilization authorization (ATU) survey of patients treated with Pheburane (sodium phenylbutyrate) taste-masked granules. Paediatr Drugs. 2016;18(2):139-144.