Weilong Li

Graduate Trainee, Butler University

1 active project

Subclinical Presentations of Ornithine Transcarbamylase Deficiency

While most heterozygotes of OTC deficiency are thought to be asymptomatic, these patients have an increased likelihood of having neurocognitive findings similar to those of elderly patients with mild cognitive impairment and can have particular difficulty with executive functioning. While…

Scientific Questions Being Studied

While most heterozygotes of OTC deficiency are thought to be asymptomatic, these patients have an increased likelihood of having neurocognitive findings similar to those of elderly patients with mild cognitive impairment and can have particular difficulty with executive functioning. While these findings may not be as severe as the life-threatening encephalopathy associated with metabolic decompensation in classical OTCD, cognitive changes in early life can be associated with decreased wealth accumulation, reduced quality of life, and worsening of existing socioeconomic healthcare inequalities. OTC heterozygotes are often underdiagnosed, and little is known about the natural history of these patients or what treatments may be effective. This study aims to utilize the All of Us data to investigate the experiences of asymptomatic OTC carriers to help clinicians make informed decisions in the care of these patients.

Project Purpose(s)

  • Disease Focused Research (ornithine carbamoyltransferase deficiency)
  • Ancestry

Scientific Approaches

This study will be a retrospective analysis of genomic, electronic health record, and survey data within the All of Us data repository to investigate the prevalence of OTC carriers who have not been diagnosed with OTCD, as well as the prevalence of nonspecific symptoms and life experiences associated with OTCD in these individuals. Specifically, this study will identify certain diagnoses (headache, depression, ADHD, disorientation, cognitive impairment, and changes in emotional state) using ICD-10 coding data from the EMR, liver function (ALT/AST) using lab values from the EMR, perceived quality of health (health quality, quality of life, physical health quality, mental health quality, fatigue levels) using self-reported survey data, and other self-reported survey data (highest level of schooling, annual income, and most recent utilization of healthcare). These data will be compared between OTC heterozygotes without a diagnosis of OTC deficiency and the general population.

Anticipated Findings

This study is anticipated to provide information about how the subjective and objective health of individuals differ between OTC heterozygotes and the general population. Previous studies have either studied small samples of OTC heterozygotes, or were observational and did not compare OTC heterozygotes to a control group. This study will be the first of its kind to utilize a large dataset to compare OTC heterozygotes to the general population to identify differences in the clinical presentations of OTC heterozygotes.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

  • Weilong Li - Graduate Trainee, Butler University

Collaborators:

  • Sean Kolhoff - Senior Researcher, Physician Associate Foundation
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