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.
- Long Chain Acyl-CoA Dehydrogenase Deficiency
- LCAD Deficiency
- Nonketotic Hypoglycemia Caused by Deficiency of Acyl-CoA Dehydrogenase
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.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, Intl CW2 6BG
Tel: +44 870 7700 325
Fax: +44 870 7700 327
United Mitochondrial Disease Foundation (UMDF)
8085 Saltsburg Road
Pittsburgh, PA 15239
Organic Acidemia Association
13210 35th Avenue North
Plymouth, MN 55441
Organic Acidaemias UK
5 Saxon Road
Middlesex, Intl TW15 1QL
NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
FOD (Fatty Oxidation Disorders) Family Support Group
Okemos, MI 48864
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
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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