Fatty Acid Oxidation Disorders Support Group

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 [Please note, however, that blood glucose levels should not be TOTALLY relied on as the ONLY indicator of a possible 'crisis.' 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. 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.

Some of the more common fatty acid metabolism disorders are:

CACT - Carnitine/acylcarnitine translocase deficiency
CPT II - Carnitine palmitoyl transferase deficiency type II
CPT1A - Carnitine palmitoyl transferase deficiency type 1A
MADD - Glutaric aciduria type II (GA II)/Multiple acyl-CoA dehydrogenase deficiency
IBCD - Isobutyryl-CoA dehydrogenase deficiency
MCAD - Medium chain acyl-CoA dehydrogenase deficiency
LCHAD - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
SCAD - Short chain acyl-CoA dehydrogenase deficiency
M/SCHAD - Medium/Short chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
TFPD - Trifunctional protein deficiency
VLCAD - Very long chain acyl-CoA dehydrogenase deficiency