Perspectives on long-term medical management of urea cycle disorders: insights from a survey of UK healthcare professionals.

ABSTRACT:

Background

Urea cycle disorders (UCDs) are rare inborn errors of metabolism which impact the body's ability to detoxify ammonia produced during protein metabolism. In the UK, there is a nationally adopted guideline for the emergency management of hyperammonaemia in UCD patients, however there is no guideline for long‑term management, and treatment decisions are left to the discretion of individual healthcare professionals (HCPs).

Results

Twenty-three HCPs, comprising 13 (57%) metabolic consultants, two (9%) specialist nurses, four (17%) pharmacists, and four (17%) dietitians, participated in interviews to document their attitudes and beliefs regarding the long‑term management of UCD patients, including their current practices, treatment goals, and clinical ambitions. The hig

SUBMITTER: Stepien KM 

PROVIDER: S-EPMC11921535 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature