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    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

    • 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

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. 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: 6/27/2013
    Copyright 1996, 1998, 2004, 2009, 2010, 2013 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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