Carnitine is ubiquitous micronutrient present in each and every cell of the body. This molecule is derived from amino acid methionine and lysine. Carnitine plays vital role in production of energy. Its main function is to transport long chain fatty acid into the mitochondria (core) of the cell so that the fat can be burned for energy production.
Cause and types of carnitine deficiency:
Carnitine deficiency exists in two types; primary carnitine deficiency and secondary carnitine deficiency.
Primary carnitine deficiency: It occurs due to abnormality in the genes of parents. In this rare disorder the gene causes problem with a substance that carries carnitine into the cell mitochondria. In primary carnitine deficiency the body is unable to utilize the fatty acids for energy production because of low level of carnitine.
Secondary carnitine deficiency: It is more common form of carnitine deficiency. The problem does not lie in getting inside the cell, but in this type the there is low level of carnitine in blood due to certain medical problem. Secondary deficiency is observed in chronic renal failure, or with use of certain medicines where there either carnitine is not absorbed properly or is excreted excessively. Medical conditions such as liver disease, intestinal disease, malnutrition, metabolic disorder and drugs such as valproate can increase the risk of secondary carnitine deficiency.
The symptoms of primary carnitine deficiency are more pronounced and serious as compared to secondary. The symptoms of primary develop during early childhood period. But sometimes it may develop even during adulthood. Secondary deficiency is milder variety and symptoms may aggravate during fasting or while performing excessive strenuous exercise or even during illness.
- Mild to moderate weakness in skeletal muscles.
- Shortness of breath and swelling of feet and face if heart is enlarged which generally develops in primary carnitine deficiency.
- Hypoglycemia because of liver damage
- Increased irritability
- Loss of appetite
- Vomiting and nausea.
- Delay in movement during infancy.
- Liver enlargement
- Confusion and increased lethargy.
Diagnosis of carnitine deficiency:
Carnitine deficiency is diagnosed with the help of symptoms and tests. Following tests are recommended by doctor if he suspects the cause of your problem is carnitine deficiency.
- Blood test: It helps to know the level of carnitine in blood. Liver enzyme study to detect any liver damage.
- Urine test: It detects if ketone is present in urine.
- Genetic blood test: To detect and confirm primary carnitine deficiency.
- Echocardiogram: To detect enlargement of heart and its function.
The main aim of treatment in carnitine deficiency is to stabilize the level of carnitine in blood. Here are some of the ways to optimize its level in the body.
- Person must not skip his meal and eat his meal from time to time. This will help in maintaining healthy level of carnitine in the body.
- L-carnitine is found plenty in meat, fish, milk and poultry. Red beef has high concentration of carnitine.
- Patients with primary carnitine deficiency will require L-carnitine supplements. They will have to take the supplements throughout their life as recommended by the physician.
- Person with secondary carnitine deficiency may need supplement for a limited period of time.