LCHAD

There are thousands of inherited diseases of metabolism most involving the deficiency of a certain enzyme in the cells. The most common disease of fat metabolism is MCAD, Medium Chain AcylCoA Dehydrogenase Deficiency, which usually doesn't present symptoms until a person's body is severely stressed for example with the Flu. LCHAD (Long Chain 3-Hydroxyacyl COA Dehydrogenase Deficiency) is one of the less common deficiencies of fat metabolism which wasn't tested for until 1990. At that time it was usually only detected in autopsies of babies of about 5 months. They had presented with such severe symptoms that they had died before it could be determined what to do, to save them. . At 5 months of age Adam was admitted to the ER with severe Hypotonia (completely limp, no muscle strength), low blood sugar, and fat infiltration in the walls of his heart, in his liver and in his skeletial muscles. Fortunately his heart wasn't too badly damaged by fat and with a low fat diet and frequent feedings, his heart went back to normal within a few months.