Quantitative plasma carnitine, plasma carnitine, plasma acylcarnitine analysis

This test measures the amount of a substance called carnitine in your blood. It looks at how much usable or "free" carnitine you have. It compares that with the total amount in your blood.

Carnitine is a compound that's present in nearly every part of your body. Your cells normally use the fats in your body for energy. Without carnitine, your body has trouble digesting fatty acids. It can't turn fats into energy. It uses the sugar in your blood for energy instead.

Some people have a carnitine deficiency. If your body can't use carnitine, you have low blood sugar and can become weak, tired, and anemic. You may have heart and kidney problems. Some people even get progressive muscle diseases like muscular dystrophy.

About 1 in every 100,000 babies born in the U.S. has a carnitine deficiency. Newborns are usually screened for a condition called primary carnitine deficiency. Some people also get a carnitine deficiency because of type 2 diabetes, cancer, heart problems, or kidney problems. This problem is more common in Japan. In that country 1 in every 40,000 babies is born with a primary carnitine deficiency.

Getting tested helps your healthcare provider find out whether you are able to use carnitine as you should.

You may need this test if you are being treated for type 2 diabetes, cancer, an enlarged heart, or kidney disease. In some cases, these conditions can affect how you use carnitine.

This test is often given to babies shortly after birth. It is also given to toddlers, especially if they show signs of carnitine deficiency. These signs include eating problems, vomiting, confusion, seizures, and muscle weakness.

If your healthcare provider thinks you have another disease or inherited disorder, you may need other tests. These include:

• Complete blood count. This test looks for blood disorders such as anemia.

• Serum electrolytes. This looks for an imbalance of sodium, potassium, or other electrolytes in your blood.

• Blood sugar (glucose). This measures your blood sugar and helps diagnose diabetes.

• Tests to look for liver injury and disease

• Blood gas. This looks for an acid-base imbalance in your blood.

• Urine tests. These check your urine for signs of a kidney infection, urinary tract damage, infection, or diabetes.

Your healthcare provider may also talk to you about genetic testing if he or she think there is a genetic reason you can't absorb carnitine.

Test results may vary depending on your age, gender, health history, the method used for the test, and other things. Your test results may not mean you have a problem. Ask your healthcare provider what your test results mean for you. 

Test results are a percentage of the amount of free carnitine compared with the total amount of carnitine in your blood. A ratio greater than 0.4 suggests you have a carnitine deficiency. Also, if your total serum carnitine is less than 40 micromoles per liter (μmol/L), you may have a carnitine deficiency.

Results also depend on your physical condition and age.

The test is done with a blood sample. A needle is used to draw blood from a vein in your arm or hand. 

Having a blood test with a needle carries some risks. These include bleeding, infection, bruising, and feeling lightheaded. When the needle pricks your arm or hand, you may feel a slight sting or pain. Afterward, the site may be sore. 

What you eat may affect the results of this test.

Ask your healthcare provider whether you should not eat or drink anything but water before this test. Be sure your provider knows about all medicines, herbs, vitamins, and supplements you are taking. This includes medicines that don't need a prescription and any illicit drugs you may use.