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.
- GA II
- Glutaric Acidemia II
- Glutaric Aciduria II
- Glutaricacidemia II
- Multiple Acyl-Co-A Dehydrogenation Deficiency
- Electron Transfer Flavoprotein: Ubiquinone Oxidoreductase, Deficiency of
- Electron Transfer Flavoprotein, Deficiency of
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)
176 Nantwich Road
Crewe, CW2 6BG
Lactic Acidosis Support Trust
1A Whitley Close
Cheshire, CW10 0NQ
Organic Acidemia Association
P.O. Box 1008
Pinole, CA 94564
Organic Acidaemias UK
5, Saxon Road
Middlesex, TW15 1QL
FOD (Fatty Oxidation Disorders) Family Support Group
PO Box 54
Okemos, MI 48864
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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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
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Last Updated: 5/10/2008
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