Important

It is possible that the main title of the report Glutaricaciduria I 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.

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 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 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.