Glutaricaciduria II
Autor: cassiano figueiredo neto | Publicado: 2011-08-01T08:51:00-07:00






Parte inferior do formulárioInfoGlutaricaciduria IIAbstractYou are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering full Rare Disease reports to visitors who register on our website, for free. If you have already registered or if you are a subscriber, clicking the link to view the full report will give you an opportunity to log in. You will also be able to register or to reset your password. Registration is free and we do not share your information with anyone else, but you are limited to two full reports a day.View Full ReportSynonyms of Glutaricaciduria IIElectron 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 SubdivisionsNo subdivisions found.
General DiscussionGlutaricaciduria 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 IIChildren Living with Inherited Metabolic Diseases (CLIMB) 
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: 084-5 2-41 2174
800 #: 800- 65-2 3181
e-mail: info.svcs@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/
Genetic and Rare Diseases (GARD) Information Center 
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
Lactic Acidosis Support Trust 
1A Whitley Close
Middlewich
Cheshire None CW10 0NQ
Phone #: 016-068-3719
800 #: --
e-mail: N/A
Home page: N/A
MUMS 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
Ashford
Middlesex Intl TW15 1QL
Phone #: 44--178-4-245989
800 #: --
e-mail: info.oauk@tiscali.co.uk
Home page: http://myweb.tiscali.co.uk/priddy/
Organic Acidemia Association 
P.O. Box 1008
Pinole CA 94564
Phone #: 763-559-1797
800 #: --
e-mail: carolbarton@oaanews.org
Home page: http://www.oaanews.org/index.htm
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