Fatty Oxidation Disorders (FODs) are genetic metabolic deficiencies in which the body is unable to oxidize (breakdown) fatty acids to make energy because an enzyme is either missing or not working correctly. The main source of energy for the body is a sugar called glucose. Normally when the glucose runs out, fat is broken down into energy. However, that energy is not readily available to children and adults with an FOD.
When diagnosed and treated AT BIRTH the prognosis for most of the FODs (i.e., MCAD etc) is excellent. Most can make adjustments to diet/meds when necessary during times of extra activity and illness and lead a full life. However, if undiagnosed and untreated, these disorders can lead to serious complications affecting the liver, heart, eyes and general muscle development, and possibly death.
Important Note to New Families from Deb (FOD Director): Because Kevin was diagnosed (MCAD) and treated from BIRTH in 1986, he is now an active, healthy and thriving college graduate out in the working world ~ so one CAN learn to live with an FOD! There may be various challenges along the way for some individuals with FODs and the prognosis may vary (ie., especially if diagnosed late, after a severe crisis, having one of the more rare disorders, etc) but knowing you have an FOD and how to treat on a daily basis and in an emergency is VITAL...we didn't have that opportunity with Kristen ~ so to those that don't fully 'get it' yet ~ go beyond the standard newborn screening and get onboard with universal expanded and comprehensive Newborn Screening and save babies' lives!
There is a wide variation in presentation of FODs, even within the same family. Not every individual responds to a disorder in the same way. Some may be without major symptoms, yet others may have chronic bouts of low blood sugar leading to many hospitalizations, especially during the 1st years of life.
Please note, however, that blood glucose levels should not be TOTALLY relied on as the ONLY indicator of a possible 'crisis.' Do NOT compare FODs to diabetes! Changes in behavior, irritability, lethargy, and blood levels such as ammonia, liver enzyme and cp(cpk) should also be monitored. An emergency situation exists when a "metabolic crisis" occurs. A crisis is often preceded by a period of fasting, possibly due to an ear infection or flu. Other symptoms may include vomiting, diarrhea, lethargy (very sleepy), seizures, coma and difficulty breathing.
Please also refer to our Description of Disorders page for more specific information on symptoms and presentation of the various FODs.
Awareness of how to diagnose and treat these disorders is vital because during a metabolic crisis, an undiagnosed individual may experience excessive buildup of fat in the liver, heart and kidneys, along with some brain swelling—all of which can lead to death. Those deaths have sometimes been MISdiagnosed as SIDS (Sudden Infant Death Syndrome) or Reye's Syndrome.
Note: A very shamefully sad and disturbing ramification of searching for a diagnosis (for some Families it's been YEARS), is having to endure false accusations of munchausen syndrome by proxy ~ metabolic and mitochondrial disorders are very complex to diagnose at times and Families (specifically Moms) should NOT have to face these types of FALSE accusations! Please read comments sent to me (from a Support Group that has had over a dozen parents falsely accused of MSBP) in regard to the so-called 'perpetrator profile.' I have also spoken to at least 15 FOD Families about actual allegations and threats of allegations. If you have been victimized and traumatized by these FALSE ACCUSATIONS contact Groups [Note: Groups listed on the FOD website are not endorsements by the FOD Group] that understand what your Family is shamefully going through and seek their support and information. Our Group, however, does not have the contacts and legal expertise needed to truly help individuals accused of MSBP.