Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)
National Organization for Rare Disorders, Inc.
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 Back to top
- nonketotic hypoglycemia caused by deficiency of acyl-CoA dehydrogenase
Disorder Subdivisions Back to top
General Discussion Back to top
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). However, patients may present with a combination of symptoms and the disease is best thought of as being a continuum. 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.
Resources Back to top
Children Living with Inherited Metabolic Diseases (CLIMB)
176 Nantwich Road
Crewe, Intl CW2 6BG
Tel: 0845 241 2174
Tel: 800 652 3181
United Mitochondrial Disease Foundation
8085 Saltsburg Road
Pittsburgh, PA 15239
Organic Acidemia Association
P.O. Box 1008
Pinole, CA 94564
Organic Acidaemias UK
5 Saxon Road
Middlesex, Intl TW15 1QL
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
FOD (Fatty Oxidation Disorders) Family Support Group
PO Box 54
Okemos, MI 48864
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
14 Pembroke Street
Medford, MA 02155
Childhood Liver Disease Research and Education Network
c/o Joan M. Hines, Research Administrator
The Children's Hospital
13123 E 16th Ave. B290
Aurora, CO 80045
For a Complete Report Back to top
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.
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Last Updated: 10/13/2010
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