Clinical Research Directory

Inclusion Criteria: * LC-FAOD patients: * Men and women (age ≥18 years) with a confirmed diagnosis of carnitine palmitoyltransferase 2 (CPT2) deficiency, Carnitine-acylcarnitine translocase (CACT) deficiency, Mitochondrial Trifunctional protein (MTP) deficiency, Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency or Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Healthy control subjects: \- Healthy men and women age ≥ 18 years Exclusion Criteria: LcFAOD patients: * Pregnancy * Recent acute myocardial infarction (\<6 months prior to inclusion) * Uncontrolled arrhythmia/severe conduction disorder causing hemodynamic compromise * Implantable pacemaker or other cardiac device with complete ventricular pacing * Uncontrolled heart failure with hemodynamic compromise * Uncontrolled hypertension (Systolic Blood Pressure \>150 mmHg and Diastolic Blood Pressure \>100 mmHg on repeated measurements) * Active infection, anemia, severe renal dysfunction (estimated Glomerular filtration rate \< 30 ml/min/1,73m2), or other chronic disease likely to significantly impact exercise performance * History of severe asthma or chronic obstructive pulmonary disease * Active use of medication likely to affect exercise tolerance Healthy controls: * All abovementioned exclusion criteria for LcFOAD patients * History of smoking - History of asthma, chronic obstructive pulmonary disease, heart failure, heart surgery, heart rhythm disorders or congenital heart diseases * Chronic illness (including orthopedic, endocrinological, hematological, malignant, gastrointestinal, neurological, muscle or inflammatory disorders) likely to significantly impact on exercise performance * \> 6 alcohol units per day or \> 14 alcohol units per week