Crucial
It is possible that the major title of the record Glutaricaciduria I is not the name you expected. Kindly examine the basic synonyms noting to discover the alternating name(s) and also condition class(s) covered by this report.
Words
- Dicarboxylic Aminoaciduria
- GA I
- Glutaric Acidemia I
- Glutaric Aciduria I
- Glutaricacidemia I
- Glutaryl-CoA Dehydrogenase Deficiency
- Glutaurate-Aspartate Transportation Defect
Disorder Subdivisions
- None
General Conversation
Glutaricaciduria I (GA-I) is an uncommon hereditary metabolic condition, caused by a shortage of the enzyme glutaryl-CoA dehydrogenase. Among a team of problems called “natural acidemias,” it is defined by a bigger head (macrocephaly), decreased muscle mass tone (hypotonia), throwing up, and excess acid in the blood. Affected people might additionally have uncontrolled movements of the trunk and arm or legs (dystonia or athetosis) and also dementia could additionally happen.
Children with glutaricaciduria I are occasionally erroneously thought by medical professionals to be mistreated children due to the fact that they provide with subdural and/or retinal hemorrhages.