About
In order for your body to have energy, function, and grow, it must be able to break down the foods you eat.
The body’s primary source of energy is glucose. When glucose is used up, the body turns to fat for energy. A person with a Fatty Acid Oxidation Disorder is unable to break down fatty acids properly. This results in a build-up of fatty acids in the liver and other internal organs.
When babies with Fatty Acid Oxidation Disorders go long periods of time without eating, they often experience symptoms such as low blood sugar, sleeping longer than usual, changes in mood, poor appetite, diarrhea, and vomiting.
Treatment usually includes a special diet to keep blood glucose levels at an adequate level. This may require low-fat, high-carb nutrients every 2-6 hours.
Fatty Acid Oxidation Disorders are recessive genetic disorders, meaning they are inherited, one mutated gene from each parent. Parents are carriers and are unaffected.
Utah currently screens for the following Fatty Acid Oxidation Disorders:
- CACT Deficiency
- Carnitine Uptake Defect
- CPT1 Deficiency
- CPT2 Deficiency
- Glutaric Acidemia, Type 2
- LCHAD Deficiency
- MCAD Deficiency
- SCAD Deficiency
- TFP Deficiency
- VLCAD Deficiency
Children diagnosed with Fatty Acid Oxidation Disorders receive care from the Metabolic Clinic at Primary Children’s Hospital.
