Glutaricaciduria II

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Glutaricaciduria II 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

  • GA II
  • Glutaric Acidemia II
  • Glutaric Aciduria II
  • Glutaricacidemia II
  • Multiple Acyl-Co-A Dehydrogenation Deficiency
  • MADD
  • Electron Transfer Flavoprotein: Ubiquinone Oxidoreductase, Deficiency of
  • Electron Transfer Flavoprotein, Deficiency of

Disorder Subdivisions

  • None

General Discussion

Glutaricaciduria II is one of the conditions termed organic acidemias. Individuals with these conditions have a deficiency or absence of an enzyme that prevents them from breaking down certain chenicals in the body, resulting the accumulation of several organic acids in the blood and urine. Two enzymes that may be deficient in glutaricaciduria II are electron transfer flavoprotein (ETF) and ETF-ubiquinone oxidoreductase (ETF:QO). A complete enzyme deficiency causes a severe form of the disorder termed neonatal glutaricaciduria ll that is associated with a short life span and, sometimes, with specific physical birth defects. The less severe form of the disorder is termed late onset glutaricaciduria ll and has an extremely variable age of onset. Symptoms include nausea, vomiting, weakness and low blood sugar (hypoglycemia). Glutaricaciduria II is inherited as an autosomal recessive genetic disorder.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

Lactic Acidosis Support Trust
1A Whitley Close
Middlewich
Cheshire, CW10 0NQ
United Kingdom
Tel: 0160683719
Fax: 01606837198

Organic Acidemia Association
13210 35th Avenue North
Plymouth, MN 55441
USA
Tel: (763)559-1797
Fax: (763)694-0017
Email: OAANews@aol.com
Internet: http://www.oaanews.org

Organic Acidaemias UK
5 Saxon Road
Ashford
Middlesex, Intl TW15 1QL
United Kingdom
Tel: 44-1784-245989
Email: davidpriddy@bigfoot.com

FOD (Fatty Oxidation Disorders) Family Support Group
2041 Tomahawk
Okemos, MI 48864
USA
Tel: (517)381-1940
Fax: (866)290-5206
Email: deb@fodsupport.org
Internet: http://www.fodsupport.org

International Organization of Glutaric Acidemia
Rd #4, Box 299-A
Blairsville, PA 15717
Tel: (724)459-0179
Email: mmetil@helicon.net
Internet: http://www.glutaricacidemia.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

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

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