Carnitine Palmitoyltransferase 1A Deficiency

What is Carnitine Palmitoyltransferase 1A Deficiency?

Carnitine Palmitoyltransferase 1A deficiency or CPT 1A deficiency is a condition where the nervous system is damaged, along with an almost simultaneous failure of the liver. It is usually related to periods of fasting or illness and inhibits the body from using fats to release energy, especially in periods when the body is fasting. This condition is linked to genetic factors and is usually experienced first in childhood.

What are its main signs and symptoms?

Symptoms can be classified into 3 types:

In children:

• Swelling of the liver
• Low ketones in blood
• High levels of the chemical carnitine in blood
• Low blood sugar
• Weakness in muscles

In adults:

• Muscle cramping, especially during or after exercise with no signs of liver problems or blood sugar issues

In pregnant women:

• Liver failure in mother

What are its main causes?

This is an inherited disorder, where the recessive gene is carried by both parents and passed on to the child. A child carrying only one mutated gene will be a carrier but will manifest no symptoms. It is experienced in males and females equally.

How is it diagnosed and treated?

The following diagnostic methods are used for CPT 1A:

• Observation of physical symptoms
• Tests for ketone levels, liver function and ammonia
• Skin tests for enzyme activity
• Plasma and serum testing

The key to treating CPT 1A is to ensure avoidance of hypoglycaemia (low blood sugar) in the patient. This can be done by ensuring frequent meals, diets low in fat and high in carbohydrates and a monitored diet plan. In case the patient does suffer acute hypoglycaemia, an intravenous dose of dextrose should be administered immediately.

Women who have the deficiency should be explained possible obstetric complications in advance and should have a carefully monitored pregnancy. Keeping chocolates and candies with you can help in case of a sudden drop in blood glucose levels.

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2. National Institutes of Health; [Internet]. U.S. National Library of Medicine. Carnitine palmitoyltransferase I deficiency
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4. Hawaii Department of Health. FATTY ACID DISORDER. Honolulu,Hawaii; [Internet]
5. National Institutes of Diabetes and Digestive and Kidney Diseases; [Internet]. U.S. National Library of Medicine. Metabolic Consequences of CPT-1 Deficiency