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: info@climb.org.uk
      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: deb@fodsupport.org
      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: mums@netnet.net
      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: getinfo@madisonsfoundation.org
      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: NDDIC@info.niddk.nih.gov
      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: davidpriddy@bigfoot.com
      Home page: N/A
    • United Mitochondrial Disease Foundation
      8085 Saltsburg Road
      Pittsburgh PA 15239
      Phone #: 412-793-8077
      800 #: --
      e-mail: info@umdf.org
      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