MCADD

Note: this is not an official medical source, merely the opinions  and experience of the blog author. 

For more information on Fatty-acid Oxidation Disorders and MCADD, go to  http://www.fodsupport.org/

This is an excerpt from the medical package we received upon diagnosis:

MCADD stands for “medium chain acyl-CoA dehydrogenase deficiency”. It is one type of fatty acid oxidation disorder. People with FaODs have problems breaking down fat into energy for the body. 

Patients with FaOD are unable to break down (metabolize) fatty acids to make energy.  FaOD occur because a specific enzyme that normally breaks down fatty acids is missing or not working properly (in this case, medium chain).  The main source of energy for the body is a sugar called glucose.  Normally, after a person hasn't eaten for a while, the glucose runs out, and the body breaks down fat for energy.  That energy is not readily available to children and adults with an FaOD because their body is unable to break down fatty acids properly.

Many patients with MCADD have no signs or symptoms of disease, and appear to be completely well.  However, all patients with MCADD are at risk for "metabolic crisis" which can occur following a period of fasting due to viral infection, sore throat, stomach virus, etc.   Crisis may start with vomiting, lethargy and irritability.  If not treated quickly, symptoms can progress into seizures,  coma, and organ failure.  Patients should be taken to the ER immediately and given a glucose drip among other emergency procedures..

Treatment is very manageable at home, and consists mainly of avoiding fasting and following a low fat high carbohydrate diet.   Avoiding fasting is tougher with infants, and will usually involve not going more than 4 - 6 hours without feeding, around the clock.  Doctors will add the length of feeding times based on individual conditions such as age, weight and type of disorder.


To  read about our experience getting our diagnosis through the newborn screening: click here for the blog entry


Dana at What Were We Thinking, has done an amazing job compiling resources for FaODs families and blogs.  Click on the button below to see her page