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

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson, AZ 85718
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
Endocrine Diseases Metabolic Diseases Branch
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)496-7422
Email: NDDIC@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov

FOD (Fatty Oxidation Disorders) Family Support Group
2041 Tomahawk
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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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