Health Information

 

 

Medium Chain Acyl CoA Dehydrogenase Deficiency

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Medium Chain Acyl CoA Dehydrogenase Deficiency 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

  • Dicarboxylicaciduria due to defect in Beta-Oxidation of Fatty Acids
  • Carnitine Deficiency Secondary to MCAD Deficiency
  • Dicarboxylicaciduria due to MCADH Deficiency
  • MCAD Deficiency
  • ACADM Deficiency
  • Nonketotic Hypoglycemia and Carnitine Deficiency due to MCAD Deficiency

Disorder Subdivisions

  • None

General Discussion

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase. This enzyme is found to be most active in the liver, certain white blood cells (leukocytes), and certain connective tissue cells (fibroblasts) and is necessary for the breakdown (oxidation) of certain fats (medium chain fatty acids). Failure to break down these fats can lead to the abnormal accumulation of fatty acids in the liver and the brain. Abnormally low levels of the MCAD enzyme may also hamper or interrupt other processes associated with the metabolism of fatty acids.



In infants with MCAD deficiency, symptoms may include recurrent episodes of unusually low levels of a certain sugar (glucose) in the blood (hypoglycemia), lack of energy (lethargy), vomiting, and/or liver malfunction. These symptoms are most frequently triggered when an affected infant does not eat for an extended period of time (fasting). In some cases, a viral illness (e.g., upper respiratory infection) that limits food intake may cause the symptoms to occur. MCAD deficiency is the most common disease in a group of disorders that involve abnormalities of fatty acid metabolism (fatty acid oxidation disorders [FODs]). MCAD deficiency is inherited as an autosomal recessive trait.

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



Lactic Acidosis Support Trust

1A Whitley Close

Middlewich

Cheshire, CW10 0NQ

United Kingdom

Tel: 0160683719

Fax: 01606837198



Organic Acidemia Association

P.O. Box 1008

Pinole, CA 94564

USA

Tel: (763)559-1797

Fax: (763)694-0017

Email: carolbarton@oaanews.org

Internet: http://www.oaanews.org/index.htm



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



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



Medical Home Portal

Dept. of Pediatrics

University of Utah

P.O. Box 581289

Salt Lake City, UT 84158

Tel: (801)587-9978

Fax: (801)581-3899

Email: mindy.tueller@utah.edu

Internet: http://www.medicalhomeportal.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 MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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:  4/11/2008

Copyright  1988, 1989, 1996, 1998, 2005 National Organization for Rare Disorders, Inc.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.