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Glutaricaciduria II
Important
It is possible that the main title of the report Glutaricaciduria IIis not the name you expected.
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
info@climb.org.uk
http://www.CLIMB.org.uk
Lactic Acidosis Support Trust
1A Whitley Close
Middlewich
Cheshire
CW10 0NQ
United Kingdom
Tel: 0160683719
Fax: 01606837198Organic Acidemia Association
13210 35th Avenue North
Plymouth
MN
55441
USA
Tel: (763)559-1797
Fax: (763)694-0017
OAANews@aol.com
http://www.oaanews.org
Organic Acidaemias UK
5 Saxon Road
Ashford
Middlesex
Intl
TW15 1QL
United Kingdom
Tel: 44-1784-245989
davidpriddy@bigfoot.comFOD (Fatty Oxidation Disorders) Family Support Group
2041 Tomahawk
Okemos
MI
48864
USA
Tel: (517)381-1940
deb@fodsupport.org
http://www.fodsupport.org
International Organization of Glutaric Acidemia
Rd #4, Box 299-A
Blairsville
PA
15717
Tel: (724)459-0179
mmetil@helicon.net
http://www.glutaricacidemia.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/
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
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: 5/10/2008
Copyright 1987, 1988, 1990, 1992, 1997, 2004 National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
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