What is carnitine deficiency?
Carnitine deficiency means deficiency of carnitine. Carnitine is a substance that is needed for energy production in the body. Is there too little carnitine, the cells have too little energy to do their jobs well. Harmful substances then accumulate in the body.
There are three forms of carnitine deficiency:
- Carnitine deficiency only in the muscle (myopathic carnitine deficiency);
- Carnitine deficiency in muscle and other tissues (systemic carnitine deficiency);
- Carnitine deficiency, especially in the heart muscle (systemic carnitine deficiency with heart failure).
Carnitine deficiency can be congenital (primary form). The shortage of carnitine in the cells than is due to an error in the genetic material (DNA). The disease may be hereditary (recessive inheritance).
Carnitine deficiency may also be the result of another condition, such as a metabolic disorder. This is the secondary shape.
Carnitine deficiency occurs in one in every million people. So it is a very rare condition.
The disease associated with the muscle metabolic diseases.
Carnitine deficiency symptoms
What symptoms someone gets with carnitine deficiency, will depend on the form of the disease.
Carnitine deficiency alone in the muscles
With this type weaken your muscles. Especially the muscles of the thighs, pelvis, upper arms and shoulders are affected, sometimes the facial muscles. The muscles are getting weaker.
Carnitine deficiency in muscle and other tissues.
In this form also the shortage occurs in organs, for example in the liver. The liver is working properly and is not enlarged. You can:
- be sick;
- vomiting;
- have a reduced awareness;
- in touch coma.
Carnitine deficiency, especially in the heart muscle
With this form of carnitine can get heart failure.
How does the doctor determines that you or your child has carnitine deficiency?
The doctor suggests carnitine deficiency in the following ways by:
- Blood and urine tests. Doctor measures, inter alia, the amount of carnitine in the blood and urine.
- Muscle biopsy. Sometimes the doctor takes a piece of muscle tissue away. She looks under the microscope carnitine how much there is in the muscle.