National Organization for Rare Disorders, Inc.
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.
- Electron Transfer Flavoprotein, Deficiency of
- Electron Transfer Flavoprotein: Ubiquinone Oxidoreductase, Deficiency of
- GA II
- Glutaricacidemia II
- Glutaric Acidemia II
- Glutaric Aciduria II
- Multiple Acyl-Co-A Dehydrogenation Deficiency
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.
CLIMB (Children Living with Inherited Metabolic Diseases)
- Climb Building
- 176 Nantwich Road
- Crewe, CW2 6BG
- United Kingdom
- Tel: 4408452412173
- Fax: 4408452412174
- Email: firstname.lastname@example.org
- Website: http://www.CLIMB.org.uk
FOD (Fatty Oxidation Disorders) Family Support Group
- PO Box 54
- Okemos, MI 48864
- Tel: (517)381-1940
- Fax: (866)290-5206
- Email: email@example.com
- Website: http://www.fodsupport.org
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
- Website: http://rarediseases.info.nih.gov/GARD/
Lactic Acidosis Support Trust
- 1A Whitley Close
- Cheshire, CW10 0NQ
- United Kingdom
- Tel: 160683719
- Fax: 1606837198
Organic Acidaemias UK
- 5, Saxon Road
- Middlesex, TW15 1QL
- United Kingdom
- Tel: 4401784245989
- Email: firstname.lastname@example.org
- Website: http://myweb.tiscali.co.uk/priddy/
Organic Acidemia Association
- P.O. Box 1008
- Pinole, CA 94564
- Tel: (763)559-1797
- Fax: (763)694-0017
- Email: email@example.com
- Website: http://www.oaanews.org/index.htm
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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 firstname.lastname@example.org
Last Updated: 1/15/1970
Copyright 2004 National Organization for Rare Disorders, Inc.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.