FAQs: Find Your Answers Here
What are long-chain fatty acid oxidation disorders (LC-FAOD)?
Long-chain fatty acid oxidation disorders are rare, genetic metabolic disorders that prevent the body from breaking down long-chain fatty acids into energy during metabolism.
How are LC-FAOD diagnosed?
Most people with LC-FAOD will be diagnosed after newborn screening, however, some people with milder forms of disease may not be diagnosed until later in childhood, or even in adulthood. Additional testing may be appropriate for anyone for whom a diagnosis of LC-FAOD is suspected, based on clinical symptoms, laboratory findings, or a combination of both.
My child was diagnosed with a (CPT I, CACT, CPT II, VLCAD, TFP, LCHAD) deficiency. Is that the same as an LC-FAOD?
LC-FAOD are a group of rare, genetic metabolic disorders. There are specific types (such as CPT I, CACT, CPT II, VLCAD, TFP, and LCHAD) that identify the specific enzymes or proteins involved. All LC-FAOD prevent the body from breaking down long-chain fatty acids into energy during metabolism.
Will my physician know what LC-FAOD are and how to treat them?
Family physicians, pediatricians, and other primary care providers play an important role in early identification and long-term management of people with rare diseases. These physicians may not be able to provide the complete care required, so they may direct their patients to a team of specialists within an appropriate medical specialty or clinical practice.
What is the risk for other family members or future children?
Hereditary metabolic disorders, including LC-FAOD, develop when children inherit defective genes that control metabolism. For a person to inherit LC-FAOD, they must receive one affected gene from each parent. If both parents are carriers of a gene with pathogenic mutations, there is a 1 in 4 chance a person will develop an LC-FAOD.
What advice do you have for caregivers?
Caring for a child or adult with LC-FAOD may require a significant commitment, including managing their diet and nutrition carefully, monitoring their energy levels, and watching for signs and symptoms of fatigue. Self-care is just as important as care of someone with LC-FAOD.
How can I find education and support?
Patient advocacy organizations can be a helpful resource for individuals and families affected by a rare disease. These organizations can provide support, share information and education, and help you connect with others who share similar experiences and understand your challenges.