Publication Date
11-1-2023
Journal
Molecular Genetics and Metabolism
DOI
10.1016/j.ymgme.2023.107696
PMID
37690181
PMCID
PMC10866211
PubMedCentral® Posted Date
11-1-2024
PubMedCentral® Full Text Version
Author MSS
Published Open-Access
yes
Keywords
Child, Humans, Adult, Quality of Life, Urea Cycle Disorders, Inborn, Hyperammonemia, Liver Transplantation, Phenylketonurias, Diabetes Mellitus, Multicenter Studies as Topic
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 physical and psychosocial HRQoL than their healthy peers and peers with PKU and diabetes. In children, HRQoL scores did not differ by diagnosis or severity. In adults, individuals with decreased severity had worse psychosocial HRQoL. Finally, we show that a large number of individuals would be required in clinical trials to detect differences in HRQoL in UCDs.
CONCLUSION: Individuals with UCDs have worse HRQoL compared to healthy individuals and those with PKU and diabetes. Future work should focus on the impact of liver transplantation and other clinical variables on HRQoL in UCDs.
Included in
Endocrine System Diseases Commons, Endocrinology, Diabetes, and Metabolism Commons, Genetics Commons, Genomics Commons, Medical Genetics Commons, Molecular Genetics Commons
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