Glutaric Acidemia I

Crucial
It is possible that the major title of the report Glutaricaciduria I is not the name you anticipated. Kindly inspect the synonyms providing to discover the alternate name(s) and condition neighborhood(s) covered by this report.

Words

  • Dicarboxylic Aminoaciduria
  • GA I
  • Glutaric Acidemia I
  • Glutaric Aciduria I
  • Glutaricacidemia I
  • Glutaryl-CoA Dehydrogenase Shortage
  • Glutaurate-Aspartate Transportation Problem

Disorder Neighborhoods

  • None

General Discussion
Glutaricaciduria I (GA-I) is an uncommon hereditary metabolic disorder, caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. One of a team of problems called “organic acidemias,” it is characterized by a bigger head (macrocephaly), decreased muscle tissue tone (hypotonia), throwing up, and also excess acid in the blood. Affected individuals may also have involuntary activities of the trunk and also arm or legs (dystonia or athetosis) and also dementia may also take place.

Children with glutaricaciduria I are in some cases wrongly thought by physician to be abused babies because they offer with subdural and/or retinal hemorrhages.

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