Glutaricaciduria II

Parte inferior do formulário Info Glutaricaciduria II Abstract You 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 Report 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 No subdivisions found. 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 Children 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 The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report. The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.