Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management.

ABSTRACT:

Background

Long-term treatment and emergency management are essential in most pediatric patients with inborn errors of metabolism (IEM). In routine care, these patients receive age-appropriate education to support adherence and self-management. However, little is known about pediatric patients' perspectives on long-term treatment and emergency management. We explored patients' perspectives to identify individual needs and challenges.

Methods

After ethical approval and written informed consent, we conducted semi-structured interviews with 79 patients diagnosed with IEM, aged ≥ 6 years. The interview consisted of two parts: long-term treatment (Part A) and emergency management (Part B).

Results

Altogether, 79 patients participated. Part A on long-term treatment was comp

SUBMITTER: Harings T 

PROVIDER: S-EPMC12498459 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature