Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)
National Organization for Rare Disorders, Inc.
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.
- 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)
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.
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 Acidaemias UK
5 Saxon Road
Middlesex, Intl TW15 1QL
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Endocrine Diseases Metabolic Diseases Branch
2 Information Way
Bethesda, MD 20892-3570
FOD (Fatty Oxidation Disorders) Family Support Group
Okemos, MI 48864
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
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