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Glutaricaciduria I

Abstract

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Synonyms of Glutaricaciduria I

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

Disorder Subdivisions

  • No subdivisions found.

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.

Organizations related to Glutaricaciduria I

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