Carnitine Palmitoyltransferase 1A Deficiency

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Carnitine Palmitoyltransferase 1A Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Hepatic CPT1
  • CPT 1A Deficiency
  • Hepatic Carnitine Palmitoyltransferase 1 Deficiency
  • L-CPT1 Deficiency

Disorder Subdivisions

  • None

General Discussion

Carnitine palmitoyltransferase 1A deficiency (CPT1A) is characterized by a sudden onset of liver failure and damage to the nervous system resulting from liver failure (hepatic encephalopathy), usually associated with fasting or illness. CPT1A deficiency is caused by an abnormality (mutation) in the CPT1A gene that results in the production of an abnormally functioning carnitine palmitoyltransferase 1 enzyme and decreased metabolism of long-chain fatty acids. CPT1A deficiency is inherited as an autosomal recessive genetic disorder.

Resources

Children Living with Inherited Metabolic Diseases (CLIMB)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: 0845 241 2174
Tel: 800 652 3181
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
USA
Tel: (520)529-2000
Fax: (520)529-5300
Tel: (800)572-1717
Email: mda@mdausa.org
Internet: http://www.mda.org/

NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Internet: http://www2.niddk.nih.gov/

FOD (Fatty Oxidation Disorders) Family Support Group
PO Box 54
Okemos, MI 48864
USA
Tel: (517)381-1940
Fax: (866)290-5206
Email: deb@fodsupport.org
Internet: http://www.fodsupport.org

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  3/31/2008
Copyright  1992, 1996, 2006 National Organization for Rare Disorders, Inc.

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