Primary Carnitine Deficiency

Primary carnitine deficiency can affect the heart.

Primary carnitine deficiency is a disorder that effects one in 100,000 people, though this number is significantly higher in Japan, rising to one in 40,000. People who suffer from primary canitine deficiency cannot break down fats and can be particularly affecting during periods of fasting. Primary carnitine deficiency is a treatable disorder.

Carnitine

Carnitine is a nutrient that breaks fat down into energy that can be used by the body. Carnitine is produced by the body and can also be supplied in the diet. Carnitine gets into cells to break down their fat with the help of cells called carnitine transporters, which also prevents carnitine from the leaving the body in the urine.

Carnitine Deficiency

There are two forms of carnitine deficiency, primary and secondary. Secondary carnitine deficiency occurs as a result of other disorders. However, primary carnitine deficiency is present in newborns. Primary carnitine deficiency occurs when the carnitine transporters fail to do their job, meaning that not enough carnitine is brought to the cells to break down fat, and that the body loses too much carnitine through the urine.

Symptoms

All newborns are screen to see if they have primary carnitine deficiency. If a baby does not pass the screening, they will be given carnitine supplements orally. These will cause an increase of carnitine in the plasma. If this increase is swift and extreme, then a diagnosis of primary carnitine deficiency is likely. Symptoms in childhood include abnormalities in brain functions, an enlarged heart that pumps poorly and low blood pressure. Later in life, primary carnitine deficiency can lead to liver problems, heart failure, coma and sometimes even death.

Treatment

Primary carnitine treatment is mainly treated with a prescription to L-carnitine. L-carnitine supplements provide the body with enough carnitine to function normally while also replacing all the carnitine that the body loses in the urine as a result of the disorder. Higher levels may be prescribed if you are undergoing a period of fast.

Considerations

What appear to be symptoms of primary carnitine deficiency in children may in fact be symptoms of the much more severe Reye's syndrome, which tends to develop while children are recovering from viral infections like chicken pox. Reye's syndrome is often caused by children taking aspirin during these infections.

References

• University of Maryland Medical Center: Carnitine (L-carnitine)
• Emedicine: Carnitine Deficiency - Treatment and Medication
• University of Illinois: Carnitine and CPT Deficiency
• Genetics Home Reference: Primary Carnitine Deficiency