Glutaricaciduria II / Disease

Diseases & Conditions

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Glutaricaciduria II

Synonyms of Glutaricaciduria II

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

Disorder Subdivisions

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.

Organizations related to Glutaricaciduria II

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
International Organization of Glutaric Acidemia
Rd #4, Box 299-A
Blairsville PA 15717
Phone #: 724-459-0179
800 #: --
e-mail: mmetil@helicon.net
Home page: http://www.glutaricacidemia.org
Lactic Acidosis Support Trust
1A Whitley Close
Cheshire None CW10 0NQ
Phone #: 016-068-3719
800 #: --
e-mail: N/A
Home page: N/A
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/
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
Organic Acidemia Association
13210 35th Avenue North
Plymouth MN 55441
Phone #: 763-559-1797
800 #: --
e-mail: OAANews@aol.com
Home page: http://www.oaanews.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