National Organization for Rare Disorders, Inc.
- Dicarboxylic Aminoaciduria
- GA I
- Glutaric Acidemia I
- Glutaric Aciduria I
- Glutaricacidemia I
- Glutaryl-CoA Dehydrogenase Deficiency
- Glutaurate-Aspartate Transport Defect
Glutaricaciduria I (GA-I) is a rare hereditary metabolic disorder, caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. One of a group of disorders known as "organic acidemias," it is characterized by an enlarged head (macrocephaly), decreased muscle tone (hypotonia), vomiting, and excess acid in the blood. Affected individuals may also have involuntary movements of the trunk and limbs (dystonia or athetosis) and mental retardation may also occur.
Babies with glutaricaciduria I are sometimes mistakenly thought by medical professionals to be abused babies because they present with subdural and/or retinal hemorrhages.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, CW2 6BG
1825 K Street NW, Suite 1200
Washington, DC 20006
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
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
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Last Updated: 4/8/2008
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