Carnitine Palmitoyltransferase I Deficiency

What else is it called?

  • CPT I
  • Carnitine Palmitoyltransferase IA Deficiency
  • CPT 1A deficiency
  • CPT Deficiency, Hepatic, type I
  • Liver form of Carnitine Palmitoyltransferase Deficiency

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What causes it?

Carnitine Palmitoyltransferase 1 Deficiency (CPT I) belongs to a group of disorders known as fatty acid oxidation disorders (FODS). Within your body you have a substance which can break down fat for energy, this substance is called an enzyme. with CPT l your body lacks the inability to break down the long chain fatty acids to be used for energy, especially within your muscle cells.

This disorder is caused by an error within the inherited genes from your parents which make the enzyme. The consequences of this are that you may not be able to break down fat for energy or that you can only break down very little fat

How common is it?

Since this condition has been identified 30-50 cases have been reported worldwide. Currently there has been a near equal number of females that have been reported to have this condition as there has been men.

What are the signs and symptoms?

Symptoms of CPT1 appear during infancy. Symptoms can present when you have not consumed food in a long time or your body has an extra demand for energy due to illness. Some of the Symptoms you may experience with CPT1 are:

  • Extreme fatigue
  • Poor appetite
  • Vomiting
  • Fever
  • Behaviour changes
  • Diarrhoea
  • An enlarged liver

    It is important that CPT1 is treated quickly as symptoms can become severe, these symptoms can lead to comas, seizures, liver failure and possibly death. Due to the similarity of these symptoms with other medical conditions the diagnosis can be delayed.

How is it diagnosed?

An infant with CPT1 Deficiency can be diagnosed through the standard new-born screening tests. Once you have been diagnosed with CTP1 you can seek advise from a genetic counsellor, they will answer any further questions you may have about the condition.

Can it be treated?

Currently there is no treatment for CPT1, although It can be managed through several dietary intervention strategies. A dietitian will oversee the management of your condition and answer you any questions you may have regarding CPT1. Dietitians are health care professionals which are educated to manage these conditions. It is important that you contact your dietitian if you have any questions about management or in general about CPT1. Your dietitian may incorporate a high sugar low fat diet in the effort to avoid episodes of low blood sugars (hypoglycaemia). Your dietitian may prescribe you a Glucose IV infusion, this will help you to avoid low blood sugar levels when you are sleeping, they will go through this regime with you.

Your dietitian may suggest that you avoid long chain fatty acid foods, some examples of these are: dairy, coconut oil and vegetable oil. If symptoms are not managed quickly, CPT l can lead to serious consequences such as comas, seizures and possibly death. Therefore, avoidance of prolonged periods of fasting are extremely important

Do my family need to be tested?

CPT1 can only be passed on to a child if both parents have a copy of the faulty gene. This is called autosomal recessive inheritance. A person who has a copy of the faulty gene is known as a carrier.

If both parents are carriers, their child has a one in four (25%) chance of inheriting the disorder, and a one in two chance (50%) of being a carrier. This is the same for each child the parents have.

If the child only inherits one copy of the faulty gene, they will be a carrier but will not have the disorder. In some rare cases, carriers have had mild symptoms of the disorder for which they carry the faulty gene.

Once you are diagnosed, you can speak to a genetic counsellor. They can explain how you may have inherited CPT1. They can also tell you about genetic testing for the rest of your family. They can provide advice and support if you go on to have children of your own.

Diagram showing the autosomal recessive inheritance pattern.

Relevant Organisations


References are available on request. Please email or phone 0845 241 2173 [Resource Library No:CFKB08].

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