View clinical trials related to Fatty Acid Oxidation Disorder.
Filter by:Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and developmental disabilities. The following aims are proposed: Aim 1 of this study will be to determine the chronology of biomarkers of brain injury in response to a hyperammonemic (HA) brain insult in patients with an inherited hyperammonemic disorder. Aim 2 will be to determine if S100B, NSE, and UCHL1 are altered in patients with two other inborn errors of metabolism, Maple Syrup Urine Disease (MSUD) and Glutaric Acidemia (GA1).
The purpose of the study is to collect information on disease characteristics from adult patients diagnosed with fatty acid oxidation disorders (FAOD).
This is a market research, observational study to evaluate the tolerability and acceptability of an MCT based formula for infants and young people with long chain fatty acid oxidation disorder from birth to 18 months. Patients with a confirmed diagnosis of a fatty acid oxidation disorder, which requires a specialist diet including MCT will be included in this study
This is a market research, observational study to evaluate the tolerability and acceptability of MCT supplements for young children, young people and adults with intractable epilepsy, GLUT-1 or PDHD from 3 years to adulthood.
This is a market research, observational study to evaluate the tolerability and acceptability of MCT supplements for young children and young people with intractable epilepsy, GLUT-1 or PDHD from 3 years to adulthood. Patients with a confirmed diagnosis of a fatty acid oxidation disorder, which requires a specialist diet including MCT will be included in this study
The number of people with diabetes is rising. One of the major causes of premature death in diabetes is heart failure (HF). This is when the heart cannot pump blood effectively, and this may be related to abnormalities in energy production in the heart muscle. In healthy people, the heart muscle cells show flexibility and can use both sugar and fat molecules for energy production. Although burning fat provides more energy, this process requires more oxygen than burning sugars. As a result, fat is a less efficient fuel for the heart compared to sugars, especially in situations where the energy and oxygen needs are higher, such as during exercise. The investigators propose that the heart muscle in patients with type 2 diabetes relies heavily on fat for energy provision, and fails to burn more sugar molecules for energy provision during exercise to more efficiently use oxygen. Fat and sugar uptake by the heart can be detected by the difference between the blood sugar and fat levels delivered to the heart and returning from the heart, both at rest and also when the heart is working faster during Dobutamine infusion. Dobutamine is a drug frequently used to mimic exercise, and get the heart running faster during medical tests. To test the hypothesis, the investigators will assess fat and sugar uptake by the heart at rest and when the heart is running faster, in patients with type 2 diabetes undergoing investigations to rule out coronary disease. Heart function, and blood supply to heart muscle, at rest and during Dobutamine infusion, will also be measured using MRI scanning. The same tests will be performed in people without diabetes for comparison. It will help understand diabetic heart disease and which aspects may be targeted with new treatments.