Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)

Important
It is possible that the main title of the report Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD) 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

Acyl-CoA Dehydrogenase Deficiency, Short-Chain
SCAD Deficiency
SCADH Deficiency
Lipid-Storage Myopathy Associated with SCAD Deficiency
SCAD Deficiency, Congenital (Generalized)
SCAD Deficiency, Adult-Onset (Localized)

Disorder Subdivisions

None

General Discussion

Short-chain acyl-CoA dehydrogenase deficiency is an extremely rare inherited disorder of fat metabolism belonging to a group of diseases known as fatty acid oxidation disorders (FOD). It occurs because of a deficiency of an enzyme.

The enzyme, known as short-chain acyl-CoA dehydrogenase enzyme, is involved in the breakdown of complex fatty acids into more simple substances. This takes place in the cell’s mitochondria, small, well-defined bodies found in all cells in which energy is generated from the breakdown of complex substances into simpler ones (mitochondrial oxidation). When this enzyme is deficient, excessive amounts of fatty acids accumulate in the liver and muscle tissues, and ammonia and other products accumulate in the blood and body tissues.

Although SCAD was initially thought to produce severe problems including progressive muscle weakness, hypotonia, acidemia, developmental delay, and even early death, it is now believed that this disorder is both more common and less severe in many cases than originally thought at the time of its discovery 20 years ago. Since the advent of expanded newborn screening programs using tandem mass spectrometry technology, many more SCAD infants are being detected, many of whom are well and asymptomatic.

When symptoms are present, they tend to appear soon (days to weeks) after birth and include lack of weight gain, general failure to thrive, vomiting, and poor feeding.
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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 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: 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, 2004 National Organization for Rare Disorders, Inc.

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