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.
Short chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive genetic disorder of fatty acid catabolism belonging to a group of diseases known as fatty acid oxidation disorders (FOD). It occurs because of a deficiency of the short-chain acyl-CoA dehydrogenase (SCAD) enzyme.
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, most of whom are asymptomatic.
When symptoms are present, they are variable, ranging from severe, neonatal acidosis to mild developmental delay with hypotonia.
CLIMB (Children Living with Inherited Metabolic Diseases)
- Climb Building
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- Crewe, CW2 6BG
- United Kingdom
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- Website: http://www.CLIMB.org.uk
Childhood Liver Disease Research and Education Network
- c/o Joan M. Hines, Research Administrator
- Children's Hospital Colorado
- Aurora, CO 80045
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FOD (Fatty Oxidation Disorders) Family Support Group
- PO Box 54
- Okemos, MI 48805-0054
- Tel: (517)381-1940
- Fax: (866)290-5206
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- Website: http://www.fodsupport.org
Genetic and Rare Diseases (GARD) Information Center
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- Gaithersburg, MD 20898-8126
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NIH/National Institute of Diabetes, Digestive & Kidney Diseases
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Organic Acidaemias UK
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Save Babies Through Screening Foundation
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- Cincinnati, OH 45242
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- Website: http://www.savebabies.org
United Mitochondrial Disease Foundation
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- Pittsburgh, PA 15239
- United States
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.
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.
Last Updated: 5/4/2016
Copyright 2016 National Organization for Rare Disorders, Inc.
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