Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.

ABSTRACT:

Purpose

Individuals with urea cycle disorders (UCDs) may develop recurrent hyperammonemia, episodic encephalopathy, and neurological sequelae which can impact Health-related Quality of Life (HRQoL). To date, there have been no systematic studies of HRQoL in people with UCDs.

Methods

We reviewed HRQoL and clinical data for 190 children and 203 adults enrolled in a multicenter UCD natural history study. Physical and psychosocial HRQoL in people with UCDs were compared to HRQoL in healthy people and people with phenylketonuria (PKU) and diabetes mellitus. We assessed relationships between HRQoL, UCD diagnosis, and disease severity. Finally, we calculated sample sizes required to detect changes in these HRQoL measures.

Results

Individuals with UCDs demonstrated worse phys

SUBMITTER: Murali CN 

PROVIDER: S-EPMC10866211 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature