What is carnitine deficiency? An overview of its causes, symptoms and treatment

Carnitine deficiency is a condition where carnitine levels in the body are low. This condition could be primary or secondary to other conditions. There might not be any symptoms in initially. Treatment can be done using immediate supplementation.

The inability to metabolize the amino acid carnitine or inadequate intake can be the reason behind this condition. This condition also impairs several metabolic processes and needs immediate attention.

In this article, we bring you all you need to know about carnitine deficiency along with its causes, symptoms and treatment.

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Carnitine deficiency causes

Carnitine deficiency can cause fatigue. (Image via Unsplash/Road Trip With Raj)

Typical causes of this condition can include the following:

• Inadequate intake of carnitine-rich foods.
• Enzyme deficiencies like carnitine palmitoyltransferase deficiency, methylmalonicaciduria, propionicacidemia, isovalericacidemia might prevent the metabolism of carnitine.
• Endogenous synthesis of carnitine can be impaired due to severe liver disorder.
• Excess loss of carnitine can occur due to diarrhea, diuresis or hemodialysis.
• Genetic disorders may also cause loss of carnitine from the body.
• Increased requirements for carnitine during critical illnesses can also be among the causes of carnitine deficiency.
• Decreased muscle carnitine levels due to use of zidovudine
• Use of valproate can also cause deficiency.

Deficiency of carnitine may be systemic or may only affect the muscles (myopathic deficiency).

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Carnitine deficiency symptoms

Primary deficiency of carnitine causes more symptoms than secondary deficiency. In case of genetic disorders, the symptoms might show at an early stage or later as an adult.

Symptoms might vary among individuals as well. Diet, lifestyle and physical activity levels may determine how the symptoms show up.

Symptoms can include:

• Muscle weakness or reduced muscle tone
• Tiredness (fatigue)
• Irritability
• Delayed movement of muscles
• Poor feeding in an infant
• Low blood sugar (hypoglycemia) if the liver is affected
• Swelling (edema)
• Shortness of breath in case the heart is affected

Carnitine deficiency symptoms can often be the same as other conditions like muscle fatigue, hence proper diagnosis is essential. If you're unsure of the cause of these symptoms, consult a doctor immediately.

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How to diagnose

Deficiency of carnitine can be related to heart issues. (Image via Unsplash/Robina Weermeijer)

Depending on the severity of the deficiency expected, diagnostic tests can be prescribed by the healthcare professional.

Some of them are as follows:

• Blood tests: The levels of carnitine in the blood can be determined by simple blood tests. tests also check for creatine kinase. Enzyme tests can show whether there is liver damage or not.
• Urine test: This test checks for ketones.
• Exercise tests: These tests can also help diagnose the type of deficiency.
• Genetic test: This type of test can help identify the type of deficiency, whether genetic or metabolic.
• Heart-related tests: Tests like echocardiography can confirm the condition of the heart.

A doctor will determine the requirements of the test and prescribe accordingly. Early diagnosis can help manage the situation easily.

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Carnitine deficiency treatment

The only effective treatment in the management of this condition is supplementation.

L-carnitine supplements are widely available in the market as over-the-counter products as well as prescription drugs. L-carnitine supplements can be found in the form of tablets, powders and syrups.

Healthcare professional, whether doctor or nutritionist, will determine how much L-carnitine might be required to manage the deficiency depending on the diagnosis.

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Indranil Biswas is a nutritionist and personal trainer with a diploma in dietetics and personal training with a specialization in sports nutrition and strength training.

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