metabolic disease VLCADD
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Groningen
Eligibility
Age
12 Years to 99 Years
Inclusion criteria
Inclusion criteria: * Confirmed VLCADD by genetic profiling * age: 16-65
Exclusion criteria
Exclusion criteria: * contra indications for MRI studies (assessed by standardised questionnaire as previously used in METc 08-267/K. Such as metal implants, vascular clips, eye-implants, metal particles in the eye, tattoos containing iron oxide, suspected pregnancy, refusal to be informed of strucural brain abnormalities that could be detected) * inability to perform bicycle exercise. * recent episode of rhabdomyolysis, or treatment for acute renal failure in the past 2 months. * intercurrent illness which may influence exercise tolerance (anaemia, musculoskeletal injury, or other undiagnosed illness under investigation). * known coronary artery disease, positive history for angina, or changes on ECG suggestive of previous ischaemia without a negative stress test. * insulin-dependent diabetes mellitus. * loss of, or an inability to give informed consent. * pregnancy or current breastfeeding, or females not taking the oral contraceptive pill * any other cause which in the opinion of the investigators, may affect the volunteers ability to participate in the study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To investigate: 1. the potential of a novel dietary substrate preparation to enhance muscle mitochondrial function in VLCADD via acute nutritional ketosis. 2. if tri-citric acid cycle substrate supply in muscle of patients with VLCADDis boosted by acute nutritional ketosis. | — |
Secondary
| Measure | Time frame |
|---|---|
| nvt | — |
Countries
Netherlands
Outcome results
None listed