deficiency in beta-oxidation of long-chain fat long-chain fatty acid oxidation disorder
Conditions
Interventions
None listed
Sponsors
Academisch Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: -Enzymatically confirmed long-chain fatty acid oxidation disorder including VLCAD, LCHAD, MTP, CPT1, CPT2 and CACT deficiency -18 years old or older
Exclusion criteria
Exclusion criteria: (auto-) immunedisorder
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| * monocyte phenotype, including monocyte subset percentages and their expression of key surface proteins, including inflammatory and anti-inflammatory markers and receptors * Inflammatory responses, whole blood will be activated with the prototypical pro-inflammatory TLR4 trigger LPS (lipopolysaccharide) and production of cytokines will be assessed after 24 h (i.e. IL-6, TNF, IL-12, IL-8) | — |
Secondary
| Measure | Time frame |
|---|---|
| phenotype of other immune cells (e.g. neutrophils, T cells and B cells) | — |
Countries
Netherlands
Outcome results
None listed