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Glutaric Acidemia I MeSH Supplementary Concept Data 2024


MeSH Supplementary
Glutaric Acidemia I
Unique ID
C536833
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536833
Entry Term(s)
Glutaric Acidemia Type 1
Glutaric Acidemia Type I
Glutaric Aciduria I
Glutaric acidemia 1
Glutaric aciduria 1
Glutaryl-CoA dehydrogenase deficiency
Registry Number
0
Heading Mapped to
*Amino Acid Metabolism, Inborn Errors
*Brain Diseases, Metabolic
Glutaryl-CoA Dehydrogenase / *deficiency
Frequency
199
Note
An autosomal recessive metabolic disorder characterized by GLIOSIS and neuronal loss in the BASAL GANGLIA, as well as a progressive movement disorder that usually begins during the first year of life. Germline mutations in the GCDH gene have been identified. OMIM: 231670
Date of Entry
2010/08/25
Revision Date
2015/08/18
Glutaric Acidemia I Preferred
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