Carnitine Palmitoyltransferase 1A Deficiency

Dr. Ayush PandeyMBBS,PG Diploma

November 29, 2018

March 06, 2020

Carnitine Palmitoyltransferase 1A Deficiency
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:

In adults:

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

In pregnant women:

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.


  1. National Organization for Rare Disorders. [Internet]. Danbury; Rare Disease Database
  2. National Institutes of Health; [Internet]. U.S. National Library of Medicine. Carnitine palmitoyltransferase I deficiency
  3. Bennett MJ, Santani AB. Carnitine Palmitoyltransferase 1A Deficiency. 2005 Jul 27 [Updated 2016 Mar 17]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
  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

Medicines for Carnitine Palmitoyltransferase 1A Deficiency

Medicines listed below are available for Carnitine Palmitoyltransferase 1A Deficiency. Please note that you should not take any medicines without doctor consultation. Taking any medicine without doctor's consultation can cause serious problems.

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