Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD) / Disease

Diseases & Conditions

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Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)

Synonyms of Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)

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

Disorder Subdivisions

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.

Organizations related to Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: [email protected]
Home page: http://www.CLIMB.org.uk
FOD (Fatty Oxidation Disorders) Family Support Group
2041 Tomahawk
Okemos MI 48864
Phone #: 517-381-1940
800 #: --
e-mail: [email protected]
Home page: http://www.fodsupport.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: [email protected]
Home page: http://www.madisonsfoundation.org
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Endocrine Diseases Metabolic Diseases Branch
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: --
e-mail: [email protected]
Home page: http://www.niddk.nih.gov
Organic Acidaemias UK
5 Saxon Road
Middlesex Intl TW15 1QL
Phone #: 44--178-4-245989
800 #: --
e-mail: [email protected]
Home page: N/A
United Mitochondrial Disease Foundation
8085 Saltsburg Road
Pittsburgh PA 15239
Phone #: 412-793-8077
800 #: --
e-mail: [email protected]
Home page: http://www.umdf.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