Understanding Primary Carnitine Deficiency (Child)

Carnitine is a nutrient that helps the body’s cells work normally. Primary carnitine deficiency is when not enough carnitine can get into cells in the body. This can cause muscle weakness. It can also cause heart or liver problems. Primary carnitine deficiency is a rare health problem a child is born with. It is caused by an abnormal gene.

How carnitine works in the body

You get carnitine through some of the foods you eat. It helps get fatty acids into cells to use for energy. Carnitine is vital for certain cells, such as muscle cells. With less carnitine, cells that need fatty acids for energy may not work well.

What causesprimary carnitine deficiency?

It’s caused by an abnormal gene. The gene causes a problem with a substance that carries carnitine inside cells from the blood. In some cases, this only leads to low carnitine levels in muscle. It is also called carnitine uptake defect.

Symptoms of primary carnitine deficiency

Children tend to show symptoms within the first few years of life. Symptoms can occur a bit differently in each person. Your child may have no symptoms, or they may be mild to severe. Symptoms can include:

  • Decreased or floppy muscle tone

  • Muscle weakness

  • Fatigue

  • Irritability

  • Delayed movement (motor development)

  • Poor feeding

  • Swelling (edema)

  • Shortness of breath

Diagnosing primary carnitine deficiency

Your baby may be diagnosed through standard newborn screening tests.

The process to diagnose carnitine deficiency starts with a medical history and a physical exam. The health care provider will ask about your child’s symptoms. He or she may also ask about your family’s medical history. The physical exam may include a neurological exam. Tests may also be done, such as:

  • Blood tests. These are done to check the levels of carnitine in the blood. They also check for creatine kinase, which shows muscle damage. And they check for enzymes in the blood that can show liver disease.

  • Urine test. This test looks for a protein called ketones.

  • Genetic test. This kind of test can confirm primary carnitine deficiency.

  • Heart tests. Tests such as echocardiography can show if the heart is affected.


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