Carnitine palmitoyl transferase 1A deficiency

How might carnitine palmitoyltransferase I deficiency (CPT1A deficiency) be treated?

Treatment of CPT1A deficiency usually involves the support of a metabolic specialist and a dietician familiar with CPT1A deficiency. Treatment may differ depending on severity of symptoms and may be lifelong if necessary. Treatment may include:

  • Avoidance prolonged fasting/going a long time without food
  • Incorporation of a low-fat, high carbohydrate diet
  • Use of medium Chain Triglyceride oil (special type of oil made up of medium chain triglycerides - a type of fatty acid)

Children with CPT1A deficiency may require additional care during illness to avoid a metabolic crises. Call your healthcare provider should symptoms of an illness occur such as poor appetite, low energy or excessive sleepiness, vomiting, diarrhea, or fever.

Last updated on 05-01-20

Newborn Screening

Carnitine palmitoyltransferase I deficiency

The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.

Last updated on 04-27-20

Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: Url:
Name: FOD (Fatty Oxidation Disorder) Family Support Group P.O. Box 54
Okemos, MI, 48805-0054, United States
Phone: +1-517-381-1940 [8am - 8pm EST every day] Fax : +1-866-290-5206 Email: Url:
Name: United Mitochondrial Disease Foundation 8085 Saltsburg Road, Suite 201
Pittsburgh, PA, 15239 , United States
Phone: +1-412-793-8077 Toll Free: 1-888-317-8633 Fax : +1-412-793-6477 Email: Url:
Name: MitoAction PO Box 51474
Boston, MA, 02205, United States
Phone: 1-888-MITO-411 (648-6411) for support line Toll Free: 1-888-648-6228 Email: Url:
Name: American Dietetic Association 120 South Riverside Plaza, Suite 2000
Chicago, IL, 60606-6995, United States
Toll Free: 800-366-1655 Email: Url:

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