Glutaricaciduria I

Synonyms

• Dicarboxylic Aminoaciduria
• GA I
• Glutaric Acidemia I
• Glutaric Aciduria I
• Glutaricacidemia I
• Glutaryl-CoA Dehydrogenase Deficiency
• Glutaurate-Aspartate Transport Defect

Disorder Subdivisions

• None

General Discussion

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.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, Intl CW2 6BG

United Kingdom

Tel: +44 870 7700 325

Fax: +44 870 7700 327

Email: info@climb.org.uk

Internet: http://www.CLIMB.org.uk



The Arc (a national organization on mental retardation)

1010 Wayne Ave

Suite 650

Silver Spring, MD 20910

Tel: (301)565-3842

Fax: (301)565-3843

Tel: (800)433-5255

TDD: (817)277-0553

Email: info@thearc.org

Internet: http://www.thearc.org/



Lactic Acidosis Support Trust

1A Whitley Close

Middlewich

Cheshire, CW10 0NQ

United Kingdom

Tel: 0160683719

Fax: 01606837198



Organic Acidemia Association

13210 35th Avenue North

Plymouth, MN 55441

USA

Tel: (763)559-1797

Fax: (763)694-0017

Email: OAANews@aol.com

Internet: http://www.oaanews.org



Organic Acidaemias UK

5 Saxon Road

Ashford

Middlesex, Intl TW15 1QL

United Kingdom

Tel: 44-1784-245989

Email: davidpriddy@bigfoot.com



International Organization of Glutaric Acidemia

Rd #4, Box 299-A

Blairsville, PA 15717

Tel: (724)459-0179

Email: mmetil@helicon.net

Internet: http://www.glutaricacidemia.org



MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network

150 Custer Court

Green Bay, WI 54301-1243

USA

Tel: (920)336-5333

Fax: (920)339-0995

Tel: (877)336-5333

Email: mums@netnet.net

Internet: http://www.netnet.net/mums/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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 orphan@rarediseases.org

Last Updated:  4/8/2008

Copyright  1987, 1990, 1994, 2004 National Organization for Rare Disorders, Inc.