Lysinuric Protein Intolerance, Urea Cycle Disorder
Conditions
Brief summary
Infection-related hyperammonemia in patients with urea cycle disorders is an important cause of morbidity and mortality. The relationship between immune system cells and the metabolic pathways used by these cells and inborn errors of metabolism is still under investigation. Current studies are generally based on experiments in mice. The investigators' goal is to study specific T cell subsets to understand the effects of the urea cycle on T cells. The investigators collected blood samples from participants with lysinuric protein intolerance and urea cycle disorders for basic immunophenotyping, lymphocyte proliferation in response to phytohemagglutinin and CDmix, and cytokine analysis involving Th1, Th2, and Th17 and compared them with age-matched healthy controls. They also examined amino acid profiles in sera and supernatants before and after stimulation with PMA-ionomycin.
Detailed description
The investigators aim to compare cellular immune response of T cell phenotype and proliferative functions in addition to lymphocyte subset analysis between urea cycle disorders and healthy controls. Complete blood counts, immunoglobuline levels, lymptocyte subset analysis and Thelper cells will be analyzed. Additionally, T helper cells will be measured regarding their cytokine profile as Th1, Th2 and Th17. T cell proliferation response and aminoacid profiles in supernatants before and after stimulation will be measured.
Interventions
None listed
Sponsors
Istanbul University - Cerrahpasa
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
No minimum to 53 Years
Healthy volunteers
Yes
Inclusion criteria
* Children without any chronic conditions and having normal immunoglobulins and lymphocyte subsets
Exclusion criteria
* For healthy control, children having any signs for primary immune deficiencies
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Measurement of Th1, Th2 and Th17 cells | baseline | Th1, Th2 and Th17 cells will be measured following stimulation in cell culture |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Measurement of T cell proliferative capacity | baseline | T cells' proliferation will be measured following stimulation in cell culture |
Other
| Measure | Time frame | Description |
|---|---|---|
| Measurement of amino acid profile changes before and after stimulation | baseline | Serum Aminoacids from periphery, in cell culture supernatants before and after stimulation will be measured |
Countries
Turkey (Türkiye)
Outcome results
None listed