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List of FODs & Symptons

FODs Addressed on This Site

  • Carnitine Transport Defect/CUD (Primary Carnitine Deficiency)

  • Carnitine-Acylcarnitine Translocase (CACT) Deficiency

  • Carnitine Palmitoyl Transferase I & II (CPT I & II) Deficiency

  • Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency

  • Long Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency

  • Trifunctional Protein (TFP) Deficiency

  • Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency

  • MCHAD/SCHAD Deficiency

  • MCKAT Deficiency

  • 2,4 Dienoyl-CoA Reductase Deficiency

  • Short Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency

  • Short Chain L-3-Hydroxyacyl-CoA Dehydrogenase (SCHAD) Deficiency (now called 3-Hydroxy Acyl CoA Dehydrogenase Deficiency HADH)

  • Electron Transfer Flavoprotein (ETF) Dehydrogenase Deficiency (MADD/GA 2)

  • 3-Hydroxy-3 Methylglutaryl-CoA Lyase (HMG) Deficiency

  • ACAD9 Deficiency

  • Unclassified FODs

 

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.

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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.

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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!

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Symptoms

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.

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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.

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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.

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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 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.

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[Note: Groups listed on the FOD website are not endorsements by the FOD Group]

Diagnosis & Treatment

Fatty Oxidation Disorders are autosomal recessive disorders affecting both males and females. Both parents are carriers of an abnormal gene, in that when two abnormal genes unite the child will have an FOD. There is a 25% chance that each child will have an FOD and a 75% chance of being a carrier or not having the disorder at all. If one child is diagnosed with an FOD, their siblings should also be tested, even if they are asymptomatic.

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These disorders are diagnosed in a variety of ways at specialized labs across the country. Also refer to this information on diagnosis of mitochondrial disorders. Blood, urine, skin fibroblasts, amniocytes (from amniotic fluid) and muscle and liver tissue are some of the specimens analyzed. The diagnostic tests often include an acylcarnitine profile, urine organic acid analysis, carnitine levels and enzyme assays in fibroblasts. The acylcarnitine profile with whole blood on a ‘PKU card’ (filter paper card) is the most direct approach for diagnosis of most of the FODs. Many Drs are now also prescribing for whole exome or genome testing to gather more information and possibly a diagnosis, especially if some of the other testing is inconclusive.

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Treatment for FODs is multidimensional. A major concern is to avoid going without food/calories for beyond 8-12 hours (i.e., an overnight sleep for a child or adult, when well.) It is strongly recommended, however, for infants under age 6 months, they should be fed around the clock every 2-4 hrs. Most children/adults with an FOD eat often throughout their waking hours (i.e., every 3-6 hrs) ~ the interval depends on various factors and their specific circumstances, such as if they are ill versus well, in which case they most likely would try to eat/drink more often around the clock. Please note that fasting times can vary from person to person within the different disorders. A fasting state, especially while ill, can trigger a “metabolic crisis” leading to lethargy and hospitalization.

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Several snacks and meals of low fat/high carbohydrate foods ~ such as cereal, pasta, and other complex carbohydrates (as well as sugar drinks when not well) ~ are recommended throughout the day. Additionally, some families use various supplements (i.e., riboflavin, coQ10) and MCT Oil or the prescription Dojolvi/c7 oil (not used for all FODs, especially MCAD, since the medium chain triglycerides cannot be broken down). Infants under six months or so should continue to have at least one night feeding/snack as they should not go 10-12 hours without eating. If the FOD child/adult has experienced hypoglycemia (even with frequent meals), in order to help decrease the frequency of low blood sugar in the morning, some find it helpful to mix in 1-3 tablespoons of raw corn starch (i.e. Argo) to a cold sugar-free liquid or food at night ~ be aware that too much cornstarch can be constipating for some individuals. Please also note that  cornstarch is NOT recommended for children under one year of age because they often lack the necessary pancreatic amylase to digest the cornstarch. Cornstarch can also be very hard on teeth ~ so be sure to brush after eating/drinking the cornstarch.

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Some physicians prescribe the FDA-approved drug Carnitor® (manufactured by Leadiant Biosciences) as an L-carnitine supplement for several FODs, especially if carnitine deficiency is a secondary disorder. [Please note: There is now an FDA-approved generic form of l-carnitine (levocarnitine) along with the brand name Carnitor®.] Although carnitine is made within the body, sometimes supplementation is necessary. L-carnitine helps the body’s metabolism run smoothly. It is useful in preventing low blood sugar and assists in removing metabolic wastes from the cells so a buildup of toxins will not occur. Please note that the health food store carnitine is NOT the same as the prescribed drug Carnitor®, (or the prescription generic drug form) and using it in place of the prescribed drug may be dangerous.

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As with any medical condition, discussing treatment options with your physician(s) and FOD specialists is necessary for the well-being of anyone with an FOD. Please do not make any changes in your child’s or your own treatment without first consulting with your physician(s).

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If hospitalized, it is imperative, according to FOD specialists, that a 10% dextrose IV (5% is NOT enough) is started immediately following blood chemistry samplings ~ waiting hours for the results before putting in the IV can be fatal when an FOD child/adult is in crisis. The 10% dextrose/glucose gives NEEDED FUEL to the brain and body that normal saline IV cannot provide. Also note that even though the child/adult may appear to be hydrated, it does NOT mean they are not heading toward a crisis ~ they may have fluids onboard, but they NEED CALORIES to help them prevent and/or get through a metabolic crisis/stress. Many experts also recommend the use of carnitine (Carnitor® or Levocarnitine – prescribed drugs) and if one cannot keep oral carnitine down due to vomiting, there is an IV carnitine available for emergencies.

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Too many children/adults have been sent home from the ER because they didn’t LOOK sick ~ those with FODs do not have any kind of ‘look’ so INSIST that the blood and urine chemistries are done to determine what is going on INSIDE their bodies!

Emergency Protocol Info &
Examples of ER Letters

URGENT Info for ER Personnel and Others

When FOD Families call 911 or come into an ER please FOLLOW the EMERGENCY PROTOCOL LETTER IMMEDIATELY that their specialist has given them and LISTEN to the PARENTS or FOD Adult! We are having some of our Families thrust into bereavement all because someone CHOOSES to BLATANTLY DISREGARD the Protocol and send Families home because their child/adult ‘looks’ okay or they think the blood sugar is sufficient [FOD children/adults can often present with symptoms even when the BS level is in the 70s and 80s]. DO NOT ASSUME you know how to treat FODs, especially if you have never treated an FOD individual in crisis ~ it is NOT treated like diabetes.

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FOLLOW THE PROTOCOL that their specialist has individualized specifically for them!

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**Why Emergency Protocols are NEEDED and why they NEED to be followed by Chuck Hehmeyer, practicing attorney

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If hospitalized [ie., for illness, surgery etc], it is imperative, according to FOD specialists, that a 10% dextrose IV (D5% is NOT enough) is started immediately following blood chemistry samplings ~ waiting hours for the results before putting in the IV can be fatal when an FOD child/adult is in crisis. The 10% dextrose/glucose gives NEEDED FUEL to the brain and body that normal saline IV cannot provide. Also note that even though the child/adult may appear to be hydrated, it does NOT mean they are not heading toward a crisis ~ they may have fluids onboard, but they NEED CALORIES to help them prevent and/or get through a metabolic crisis/stress. Many experts also recommend the use of carnitine (Carnitor® or Levocarnitine – prescribed drugs) and if one cannot keep oral carnitine down due to vomiting, there is an IV carnitine available for emergencies.

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Too many children/adults have been sent home from the ER because they didn’t LOOK sick ~ those with FODs do not have any kind of ‘look’ so INSIST that the blood and urine chemistries are done to determine what is going on INSIDE their bodies! We have had some NEEDLESS DEATHS due to being sent home TOO SOON!

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[From our FOD Experts] A plasma glucose in the “normal range” does not mean it is safe to skip a D10 bolus if a medical protocol instructs that a bolus is necessary. When a patient is ill, some FODs require a glucose infusion even in the face of a glucose level that is normal or near normal as toxic metabolites can still accumulate.  Sometimes only a glucose bolus will reset the metabolic “thermostat” which regulates breakdown of endogenous (stored) fat. If a physician has concerns about a glucose bolus for a sick FOD patient based on a normal/near normal plasma glucose level, the answer is NOT to ignore the protocol. The patient’s treating metabolic physician must be consulted immediately or, if unavailable, another metabolic physician should be paged. For many FODs, it is much easier to deal with transient hyperglycemia than the consequences of continued decompensation.

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Note: Specialists also advise to Avoid fat binding/producing anesthetics, lactated ringers, long term use of steroids, and products that contain aspirin or salicylates. These can cause possible complications.

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Anesthesia Concerns: Propofol Infusion Syndrome

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More Info for ER Personnel

 

Metabolic Diagnostic Labs/Clinics

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Emergency Protocol Letter Examples

 

Please be aware that the above Protocol Letters are just EXAMPLES that some of our Families have shared with our Group. It is important that you INDIVIDUALIZE your/your child’s protocol sheet in conjunction with your physicians and other professionals. Please also refer to the URGENT INFO posted above for Emergency Room personnel.

Description of Disorders

Information for Clinicians

 

*** Please Note: The expanded Newborn Screen test may detect or ‘

red flag’ several FODs, as well as many other metabolic disorders ~ however, the enbs is not 100% definitive and it is DIFFERENT than the Diagnostic acylcarnitine profile test that is often used to specifically diagnose FODs (*see article below – other diagnostic tests are used as well to give a more complete picture, since the profile can also come back inconclusive or normal, especially if the blood was taken when the child/adult was well).

 

There is also the possibility of false positives and false negatives with the newborn screen test. It is very important, especially after a false negative, if your child experiences symptoms such as lethargy, low muscle tone, low blood sugars, chronic illnesses, seizures etc, that you INSIST on pursuing Diagnostic testing, and not just another newborn screen test. Your Dr can inquire about what other tests might be suggested (ie., acylcarnitine profile, plasma carnitine levels, urine organic acids, DNA testing) and types of specimens needed (blood or urine, skin or muscle biopsy, amniocytes, postmortem tissues) to further assist in the diagnostic evaluation of FODs for children and adults.

Medical Info, Links & Resources

Receiving a diagnosis for a rare genetic metabolic deficiency can be very frightening for a family, especially if they know nothing about the disorder. Gaining information about an FOD is a positive step toward easing some of that fear ~ you have to know what you’re dealing with medically before you can put all other ramifications in perspective. It IS possible to live a long and healthy life with an FOD ~ the KEY is diagnosing/treating it as early as possible ~ and with FODs now being screened for at BIRTH in many states/countries, more and more babies’ lives are being saved!

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Although each FOD child/adult, even within the same family, can respond and present differently with a particular disorder, there are some similarities among all the FODs. Also keep in mind there is no ONE blanket presentation for FODs ~ and even if the initial acylcarnitine profile comes back looking normal or inconclusive one can still have an FOD. The best time to take the blood/urine tests is when one is ill/in crisis. If blood is taken when well it can sometimes come back as normal.

We hope that by reading this section it will help you begin to understand how an FOD affects the body metabolically, the current treatment procedures, the ongoing research studies available to FOD families, as well as some of the other life issues that impact an affected family. [Please note that FODs are NOT the same type of disorders as Adrenoleukodystrophies (ie., ALD – even though they also involve fatty acids as do the FODs), which is often associated with ‘Lorenzo’s Oil.’ ]

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Metabolic Clinical Centers and Info

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Carnitine Information

 

Medical Articles

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Related Informational Articles

 

FOD Research Studies

 

Help Teach Drs about FODs

 

Medical Q&A

 

Hospital Listings Online

Information for Professionals

Update Us on Your Research and/or Clinical Practice

Professionals ~ we are always seeking family-friendly articles on all of the FODs and issues related to FOD Families  [i.e., genetics, behavior, school, feeding etc.] , so if you would like to contribute your knowledge and expertise, PLEASE do! Additionally, in order to provide our Families with updated and more specific information on whether you test for/diagnose, treat, and/or research FODs, please complete and email or mail our one-page Professional Questionnaire for FOD Referral Purposes. Even if you are already listed on our printed Professional List, we would appreciate your help in updating our files.

 

URGENT NEED for Medical Professionals ~ With more Families around the world being identified with an inborn error of metabolism our Families will need both Short and Long term Clinical Follow-up Care (possibly through Regional Metabolic Collaboration Centers) from knowledgeable and caring professionals. In addition to our Expanded Newborn Screening Advocacy, our Group is hoping to bring awareness to medical schools and other medical organizations and facilities the need for educating and training new Professionals (physicians, metabolic nutritionists, etc.) in the field of Medical Genetics and Metabolism to treat our children, as well as our FOD adults.

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One of our main Fundraising goals is to seek donations in order to eventually offer grants to Clinical and Research Centers (US only) for FOD Clinical Training (physicians, metabolic nutritionists etc.) and FOD Research. We have a PayPal link on our home page if you wish to donate to either of these Funds.

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We NEED your help NOW and in the FUTURE so our children will thrive and grow into adulthood with the best of ongoing care!

If My Child is Sick

Many families often learn about FODs the hard way ~ when a medical crisis occurs. In the midst of chaos, parents’ stress levels are stretched beyond the limit! Not having an individualized written treatment protocol for doctors to utilize in a medical crisis can have huge implications, but so can how a family addresses the everyday needs of an FOD child/adult.

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We hope this section will provide some helpful and practical suggestions for dealing with daily health issues, as well as with intermittent medical situations, to ease some of that anxiety.

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Most of these suggestions/questions are offered by families in our Group who have been dealing with an FOD for years and have, over time, come to learn what works and what doesn’t work for their child. Please be aware that these are only suggestions and may not be appropriate for every FOD child/adult. Be sure to discuss your concerns or possible adjustments in treatment/diet with your medical professionals before making any changes.

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Please contact us if you would like to see a new subject added to this section.

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Discussion Topics

Nutrition & Recipes

Welcome to the most ‘tasteful’ page of our site!

Adjustments in diet oftentimes are made for an FOD child/adult because fats cannot be broken down completely, so the amount of fat may be limited to about 20% of one’s total calories per day. For some, it may also include adding special formulas or supplements (i.e. Portagen, MCT Oil). Yet, making those adjustments doesn’t mean that recipes have to be ‘blah!’

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Families have shared with us some of their favorites recipes, as well as various nutritional resources that have been helpful to them when making those changes in diet. However, before making any of the recipes, be aware that some ingredients may not be appropriate for all FODers (i.e. MCT Oil should NOT be given to MCADers, SCADs, and possibly others with FODs). If you have any questions, please refer to your medical or nutritional professionals.

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Nutritional Resources

 

Please note: Mead Johnson has slightly changed the formulation of Portagen and made some new recommendations about its use. Those updates can be found on their website. If you have an infant (0-12 months) on Portagen, please check with your Metabolic Dietitian and/or Metabolic Doctor to be sure your baby doesn’t need anything added to their diet. This note does not apply to older children on Portagen.

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MCT Oil is now sold through Nestle Nutrition. MCT Oil is a modular source of Medium Chain Triglycerides for patients unable to to digest or absorb conventional fats (not used for ALL the FODs however). You should consult your Dr on the use of this product. Refer to the Nestle Healthcare Nutrition for further information.

You might be able to have your pharmacist examine this oil to compare the quality/ingredients to the other Oil. Another 100% MCT Oil option is through NOW®  – their MCT Oil is Pharmaceutical Grade (USP) and contains no sugar, salt, starch, yeast, wheat, gluten, corn, soy, milk, egg, shellfish or preservatives.

Nutricia Metabolics has an FOD medical food product called Monogen. It is a formula for long chain disorders (not used for all the FODs). It is available through Nutricia North America. Please visit the product page for more information.

Vitaflo also has some products for our long chain disorders ~ Lipistart is a nutritionally complete, powdered formula for the dietary management of disorders of long chain fatty acid oxidation and some other disorders. Lipistart is high in MCT (90%) and low in LCT (10%). MCT Procal is a neutral tasting powder that can be added to any food or savor items. It does not change the flavor of foods and is very soluble in liquids. Vitaflo has created a MCT Procal Recipe Guide as well. And S.O.S is a product that adds carbohydrate calories to diets without adding fat and protein calories.

 

Low-Fat Recipes, Products and ‘FUN-to-Read’ Cook Books

 

Recipe Books for Really Low-Fat, Healthy Recipes

Recipes from the Weimar Kitchen 
Weimar Institute 
PO Box 486 
Weimar, CA  95736 
This one was developed as low-fat, no cholesterol, vegetarian, and no added sugar! 

The McDougall Health-Supporting Cookbook 
John McDougall, MD 
c/o PO Box 14039 
Santa Rosa, CA  95402 
Submitted by: Sheri Sandstrom

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The Best-Kept Secrets of Healthy Cooking

More than 600 kitchen-tested, easy-to-make, light and healthy recipes, by Sandra Woodruff, RD.
Submitted by: Diane Nelson

ABOUT US >

FODSupport.org is a worldwide resource for families, friends, clinicians, researchers and others who would like to support, educate and provide a forum for those whose lives have been touched by a Fatty acid Oxidation Disorder.

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FACEBOOK

YOUTUBE

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CONTACT >

517-381-1940

[8am - 8pm EST every day]

deb@fodsupport.org

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