Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)
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.
Short chain acyl-CoA dehydrogenase (SCAD) deficiency 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 well and 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
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Internet: http://www.CLIMB.org.uk
United Mitochondrial Disease Foundation
8085 Saltsburg Road Suite 201
Pittsburgh, PA 15239
United States
Tel: (412)793-8077
Fax: (412)793-6477
Tel: (888)317-8633
Email: info@umdf.org
Internet: http://www.umdf.org
Organic Acidaemias UK
5, Saxon Road
Ashford
Middlesex, TW15 1QL
United Kingdom
Tel: 4401784245989
Email: info.oauk@gmail.com
Internet: http://myweb.tiscali.co.uk/priddy/
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Internet: http://www2.niddk.nih.gov/
FOD (Fatty Oxidation Disorders) Family Support Group
PO Box 54
Okemos, MI 48864
USA
Tel: (517)381-1940
Fax: (866)290-5206
Email: deb@fodsupport.org
Internet: http://www.fodsupport.org
Save Babies Through Screening Foundation
P.O. Box 42197
Cincinnati, OH 45242
USA
Tel: (610)251-9876
Fax: (610)647-5757
Tel: (888)454-3383
Email: email@savebabies.org
Internet: http://www.savebabies.org
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org
MitoAction
14 Pembroke Street
Medford, MA 02155
Tel: (888)648-6228
Fax: (888)648-6228
Email: info@mitoaction.org
Internet: http://www.MitoAction.org
Childhood Liver Disease Research and Education Network
c/o Joan M. Hines, Research Administrator
Children's Hospital Colorado
13123 E 16th Ave. B290
Aurora, CO 80045
Tel: (720)777-2598
Fax: (720)777-7351
Email: joan.hines@childrenscolorado.org
Internet: http://www.childrennetwork.org
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
- lipid-storage myopathy associated with SCAD deficiency
- acyl-CoA dehydrogenase deficiency, short-chain
- SCAD deficiency
- SCAD deficiency, adult-onset (localized)
- SCAD deficiency, congenital (generalized)
- SCADH deficiency
Disorder Subdivisions
- None
General Discussion
Short chain acyl-CoA dehydrogenase (SCAD) deficiency 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 well and asymptomatic.
When symptoms are present, they are variable, ranging from severe, neonatal acidosis to mild developmental delay with hypotonia.
Resources
CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Internet: http://www.CLIMB.org.uk
United Mitochondrial Disease Foundation
8085 Saltsburg Road Suite 201
Pittsburgh, PA 15239
United States
Tel: (412)793-8077
Fax: (412)793-6477
Tel: (888)317-8633
Email: info@umdf.org
Internet: http://www.umdf.org
Organic Acidaemias UK
5, Saxon Road
Ashford
Middlesex, TW15 1QL
United Kingdom
Tel: 4401784245989
Email: info.oauk@gmail.com
Internet: http://myweb.tiscali.co.uk/priddy/
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Internet: http://www2.niddk.nih.gov/
FOD (Fatty Oxidation Disorders) Family Support Group
PO Box 54
Okemos, MI 48864
USA
Tel: (517)381-1940
Fax: (866)290-5206
Email: deb@fodsupport.org
Internet: http://www.fodsupport.org
Save Babies Through Screening Foundation
P.O. Box 42197
Cincinnati, OH 45242
USA
Tel: (610)251-9876
Fax: (610)647-5757
Tel: (888)454-3383
Email: email@savebabies.org
Internet: http://www.savebabies.org
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org
MitoAction
14 Pembroke Street
Medford, MA 02155
Tel: (888)648-6228
Fax: (888)648-6228
Email: info@mitoaction.org
Internet: http://www.MitoAction.org
Childhood Liver Disease Research and Education Network
c/o Joan M. Hines, Research Administrator
Children's Hospital Colorado
13123 E 16th Ave. B290
Aurora, CO 80045
Tel: (720)777-2598
Fax: (720)777-7351
Email: joan.hines@childrenscolorado.org
Internet: http://www.childrennetwork.org
