National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Glutaricaciduria II is not the name you expected.
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
- 9040 Duluth Street
- Golden Valley, MN 55427
- 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). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 5/10/2008
Copyright 2004 National Organization for Rare Disorders, Inc.
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