You get carnitine through some of the foods you eat. It plays an important role in getting fatty acids into cells to use for energy. Carnitine is especially important for certain cells, such as muscle cells. With carnitine deficiency, cells that need fatty acids for energy may start to work poorly. Carnitine deficiency can happen in children and adults of all ages and all ethnic background.

There are 2 types of carnitine deficiency:
Primary carnitine deficiency. This is a rare condition caused by an abnormal gene. The gene causes a problem with a substance that carries carnitine inside cells from the blood. In some cases, the condition only leads to low carnitine levels in muscle. This is called primary muscle carnitine deficiency. In this condition, the body can’t use certain fats for energy, especially when the person goes without food (fasting). If the liver and heart are also affected, it may be called systemic carnitine deficiency. It is also called carnitine uptake defect.

Secondary carnitine deficiency. This is a more common condition. In this case, there isn’t a problem getting carnitine into cells. Instead, the problem is that there isn’t enough carnitine in the blood. It can result from a number of health problems. What causes carnitine deficiency?

The primary condition is caused by an abnormal gene.
amount of carnitine in the body. They may do this by increasing the amount sent out in urine. Or they may cause the body to absorb less from food. The health problems that can cause this include:

• Liver disease (fatty liver patients can be targeted / paediatric population)
• Kidney disease, especially with dialysis
• Digestive disease that causes poor absorptionn
• Malnutrition
• Mitochondrial disease
• Certain metabolic disorders
• Certain medicines, such as valproate

Who is at risk for carnitine deficiency?
Who is at risk for carnitine deficiency? The primary condition is passed down from parents to children. A child needs to get an abnormal copy of the gene from both parents. You may have a risk for the secondary condition if you have liver or kidney disease, or certain other health conditions.

What are the symptoms of carnitine deficiency?
The primary condition leads to more severe symptoms than the secondary condition. Children with primary carnitine deficiency tend to show symptoms within the first few years of life. But in some cases, symptoms may start as an adult.

Symptoms can happen a bit differently in each person. You may have no symptoms, or your symptoms may be mild to severe. Some symptoms may appear with skipping meals, a lot of exercise, or illness. Symptoms can include:

• Decreased or floppy muscle tone or muscle weakness
• Tiredness (fatigue)
• Irritabilityn
• Delayed movement (motor) development
• Poor feeding in a baby
• Symptoms of low blood sugar (hypoglycaemia) if the liver is affected
• Swelling (oedema) or shortness of breath, if the heart is affected

The symptoms of carnitine deficiency can be like other health conditions. Make sure to see your healthcare provider for a diagnosis.

How is carnitine deficiency diagnosed?
The condition may be diagnosed by a neurologist or geneticist. An infant may be diagnosed during standard new-born screening tests. The process to diagnose carnitine deficiency starts with a health history and a physical exam. Your healthcare provider will ask about your symptoms and past health conditions. They may also ask about your family’s health history. The physical exam may include a neurological exam. Tests may also be done. These include:

• Blood tests. These check the levels of carnitine in the blood. They also check for creatine kinase. This 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.
• Exercise tests. These helps identify the type of metabolic problem.
• Genetic test. This kind of test can confirm primary carnitine deficiency.
• Heart tests. Tests such as echocardiography can show if the heart is affected.