Carnitine deficiency is a metabolic condition and can result due to inability to metabolize the amino acid carnitine. The main carnitine deficiency symptoms include those related to myopathy, cardiomyopathyhypoglycemia and other problems in infants such as hypoketotic, encephalopathy and hypoglycemic.

Carnitine is a type of protein, a derivative of amino acid, which is derived from dairy and meat products. It is usually present in liver and kidneys and plays an important role in oxidation process inside body. It is also known as L-Carnitine. Carnitine deficiency symptoms can be experienced if one had low carnitine levels, about 10-20% less than normal levels.

Carnitine Deficiency Symptoms

Carnitine Deficiency

It is important to understand the role of carnitine in human body to understand about carnitine deficiency.

  • Carnitine helps in metabolizing fat and turns it into energy. It can help in prevention of fat build up and can be helpful in preventing heart problems.
  • Carnitine helps binding with essential amino acids such as lysine. It helps the body in producing collagen and also helps in absorption of essential nutrients such as calcium.
  • Carnitine also helps to regulate Methionine, another form of amino acid, which gives more strength to skin tissues, nails and hair. It can serve as a form of antioxidant that helps in fighting harmful particles and free radicles in the body.

Carnitine deficiency can be mainly classified into

  • Primary Carnitine Deficiency - It is a type of genetic problem due to which, essential nutrients required for the movement of carnitine are lost inside the body. It can also be fatal if the problem is left untreated for long time.
  • Secondary Carnitine Deficiency– This is one of the commonest forms of deficiency and can be due to an existing problem or low carnitine levels.

Carnitine Deficiency Symptoms

Some of the main carnitine deficiency symptoms include:

  • Enlargement in heart (also known as Cardiomyopathy) - this problem happens mainly in young children.
  • Weakness and fatigue, Hypoglycemia and anemia are some of the symptoms of carnitine deficiency
  • Feeling of vomiting and nausea and loss of appetite
  • Abdomen cramps and pain or diarrhea can be carnitine deficiency symptom
  • Alternation in brain causing confusion, lethargic and unresponsive stimuli can also be a symptom of carnitine deficiency.
  • Decrease in gastrointestinal motility and liver enlargement
  • Premature aging

Apart from carnitine deficiency symptoms, there are certain conditions, which can occur due to carnitine deficiency. These include

  • Angina – Angina or chest pain can be linked with deficiency of carnitine, as found in many scientific studies.
  • Weight loss – Symptoms of carnitine deficiency can also include loss of weight. Certain health studies have shown that it can result into decrease of fats inside body and increase in muscle mass.
  • Memory loss - In various evidences, L-Carnitine deficiency can also result into various memory impairment and related diseases like Alzheimer's, especially in elder people.
  • Kidney related problems - Carnitine helps in protecting kidneys from various health problems and carnitine deficiency symptoms can sometimes include kidney related problems.
  • Male infertility- Various studies have shown that carnitine can also help in increasing sperm count and carnitine deficiency symptoms can revolve around low sperm counts in men.
  • Hyperthyroidism- Some researches show that carnitine can reduce possible symptoms related to hyperthyroidism such as insomnia, palpitations, tremors etc. and low carnitine levels can contribute to problems related to this.

It is important to seek medical advice when low levels of carnitine are observed. For any of these problems, the physician may consider prescribing carnitine supplements, if appropriate.

Causes of Low Carnitine Levels

Primary Carnitine deficiency can be caused mainly due to genetic defects due to absence of gene that makes protein in your body and transports carnitine. It is known as OCTN2 and its main role is production of carnitine inside body cells. Absence of this gene can be the primary cause of low carnitine levels.

On the other hand, the causes of low carnitine levels as a secondary form of deficiency can be caused due to changes in metabolism as a result of other diseases. People with low carnitine levels are at increased risk of getting affected by other related metabolic diseases of carnitine.

In various studies it has been found that vegetarians can be at risk of having metabolic conditions like low carnitine levels. It is also noted that low carnitine level can be seen in premature infants and can also experience carnitine deficiency symptoms. One of the best ways to maintain carnitine levels in premature babies is by ensuring breastfeeding as it contains a good amount of carnitine. Some of the baby formulas also contain L-Carnitine these days.

Diagnosis of Carnitine Deficiency

Carnitine deficiency symptoms must be studied well. There are various forms of carnitine deficiency and it mainly depends on the age of the person. Diagnosis of carnitine deficiency can be done by conducting specific blood tests. A specific form of test known as amniotic villus cells analysis can be conducted on infants in order to diagnose its deficiency. Sometimes it could be important to collect samples of urine and muscles as well along with blood in order to confirm problems related to carnitine deficiency.

Treatment of Carnitine Deficiency

The main goal of treatment is to stabilize the levels of carnitine in the patient body. Below are some of the ways to do it.

  • Eat food on time- It is important to consume food on regular basis in order to maintain metabolism and health levels of carnitine.
  • Maintain healthy diet containing low fat and high in carbohydrates in order to avoid carnitine deficiency.
  • Take essential Vitamins and minerals such as Vitamin C, biotin and riboflavin
  • Take medications as advised by the physician.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: April 12, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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