Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)

Important
It is possible that the main title of the report Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) 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

Long Chain Acyl-CoA Dehydrogenase Deficiency
ACADL
LCAD Deficiency
Nonketotic Hypoglycemia Caused by Deficiency of Acyl-CoA Dehydrogenase
VLCAD

Disorder Subdivisions

None

General Discussion

Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a rare genetic disorder of fatty acid metabolism that is transmitted as an autosomal recessive trait. It occurs when an enzyme needed to break down certain very long-chain fatty acids is missing or not working properly. VLCAD is one of the metabolic diseases known as fatty acid oxidation (FOD) diseases. In the past, the name long-chain acyl-CoA dehydrogenase deficiency (LCAD) was applied to one such disease, but today it is believed that all cases once thought to be LCAD are actually VLCAD.

The breakdown of fatty acids takes place in the mitochondria found in each cell. The mitochondria are small, well-defined bodies that are found in the cytoplasm of cells and in which the body generates energy from the breakdown of complex substances into simpler ones (mitochondrial oxidation).

There appear to be two forms of VLCAD: an early-onset, severe form which, if unrecognized and undiagnosed, may lead to extreme weakness of the heart muscles (cardiomyopathy) and may be life-threatening (VLCAD-C), and a later-onset, milder form, sometimes referred to as VLCAD-H, that is characterized by repeated bouts of low blood sugar (hypoglycemia). Since the advent of expanded newborn screening programs using tandem mass spectrometry technology, more VLCAD infants are being detected earlier in the course of the disorder than in the past.
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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@climb.org.uk
Internet: http://www.CLIMB.org.uk

United Mitochondrial Disease Foundation
8085 Saltsburg Road
Suite 201
Pittsburgh, PA 15239
United States
Tel: 4127938077
Fax: 4127936477
Email: info@umdf.org
Internet: http://www.umdf.org

Organic Acidemia Association
13210 35th Avenue North
Plymouth, MN 55441
USA
Tel: 7635591797
Fax: 7636940017
Email: OAANews@aol.com
Internet: http://www.oaanews.org

Organic Acidaemias UK
5 Saxon Road
Ashford
Middlesex, Intl TW15 1QL
United Kingdom
Tel: 44-1784-245989
Email: davidpriddy@bigfoot.com

NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)907-8906
Tel: (800)891-5389
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: 5173811940
Email: deb@fodsupport.org
Internet: http://www.fodsupport.org

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

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: 1/20/2004
Copyright 1996, 1998, 2001, 2004 National Organization for Rare Disorders, Inc.

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