Carnitine Transporter Deficiency

Definition

Definition of Carnitine Transporter Deficiency
Carnitine Transporter Deficiency is one type of fatty acid oxidation disorder. People with CTD have problems using fat as energy for the body.

Symptoms

Symptoms of Carnitine Transporter Deficiency
The list of signs and symptoms for Carnitine transporter listed below:

1. Muscle weakness
2. Rhabdomyolysis
3. Central nervous system symptoms
4. Liver symptoms
5. Heart symptoms
6. Degenerative encephalopathy
7. Vomiting
8. Confusion
9. Stupor
10. Heart muscle damage
11. Chronic cardiomyopathy
12. Low blood ammonia level
13. Excess urinary carnitine
14. Encephalopathy
15. Cardiomyopathy
16. Enlarged heart
17. Low blood sugar
18. Heart failure
19. Liver problems
20. Sudden unexpected death
21. Failure to thrive
22. Hypertrophic cardiomyopathy
23. Fatty infiltration of heart muscle
24. Enlarged liver
25. Fatty stool
26. Weak muscles
27. Reduced muscle tone
28. Lipid deposits in muscles
29. Lethargy due to low blood sugar levels
30. Delayed gross motor skill development due to muscle weakness
31. Increased urine carnitine levels
32. Abnormal liver enzymes
33. High levels of ammonia in blood
34. Reduced carnitine levels in serum
35. Reduced carnitine levels in muscle
36. Reduced carnitine levels in heart
37. Reduced carnitine levels in liver

Causes

Causes of Carnitine Transporter Deficiency
CTD occurs when an enzyme, called “carnitine transporter” (CT), is either missing or not working properly. This enzyme’s job is to carry a substance called carnitine into our cells. Carnitine helps the body make energy from the fat in food. It also helps us use fat already stored in the body.

Energy from fat keeps us going whenever our bodies run low of their main source of energy, a type of sugar called glucose.  Our bodies rely on fat when we don’t eat for a stretch of time – like when we miss a meal or when we sleep.

Diagnosis

Diagnosis of Carnitine Transporter Deficiency
Consult with your doctor.

Treatment

Treatment of Carnitine Transporter Deficiency
Your baby's primary doctor will work with a metabolic doctor to care for your child. Your doctor may also suggest that you meet with a dietician familiar with CTD.

Certain treatments may be advised for some children but not others. When necessary, treatment is usually needed throughout life. The following are treatments often recommended for children with CTD:

1.  L-carnitine: The main treatment for CTD is lifelong use of L-carnitine. This is a safe and natural substance that helps body cells make energy. It also helps the body get rid of harmful wastes. L-carnitine can reverse the heart problems and muscle weakness that happen in children with CTD.  Your doctor will decide whether or not your child needs L-carnitine. Unless you are advised otherwise, use only L-carnitine prescribed by your doctor.  Do not use L-carnitine without checking with your doctor. 
2. Avoid going a long time without food: Infants and young children with CTD need to eat frequently to prevent a metabolic crisis. Your metabolic doctor will tell you how often your child needs to be fed.  In general, it is often suggested that infants be fed every four to six hours. Some babies need to eat even more frequently than this. It is important that infants be fed during the night. They may need to be woken up to eat if they do not wake up on their own. Your metabolic doctor and dietician will give you an appropriate feeding plan for your infant. Your doctor will also give you a ‘sick day’ plan tailored to your child’s needs for you to follow during illnesses or other times when your child will not eat. Your metabolic doctor will continue to advise you on how often your child should eat as he or she gets older.  When they are well, many teens and adults with CTD can go without food for up to 12 hours without problems. The other treatments usually need to be continued throughout life.
3.  Diet: Sometimes, in addition to L-carnitine treatment, a low-fat, high carbohydrate food plan is recommended. Any diet changes should be made under the guidance of a dietician familiar with CTD. Ask your doctor whether your child needs to have any changes in his or her diet.

Prognosis

Prognosis of Carnitine Transporter Deficiency
With prompt and careful treatment, children with CTD usually live healthy lives with typical growth and development. Treatment with L-carnitine can often reverse heart enlargement and muscle weakness.

Prevention

Prevention of Carnitine Transporter Deficiency
Consult with your doctor.