MeSH Browser

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 Numbers: 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

Concept UI: M0531294
Registry Numbers: 0
Terms: Glutaric Acidemia I Preferred Term
Term UI T801249
Date11/15/2011
LexicalTag NON
ThesaurusID; Glutaric acidemia 1
Term UI T740585
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Glutaryl-CoA dehydrogenase deficiency
Term UI T740587
Date02/24/2009
LexicalTag NON
ThesaurusID; Glutaric aciduria 1
Term UI T740584
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Glutaric Aciduria I
Term UI T801251
Date11/15/2011
LexicalTag NON
ThesaurusID; Glutaric Acidemia Type I
Term UI T841506
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Glutaric Acidemia Type 1
Term UI T841507
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014)

Glutaric Acidemia I MeSH Supplementary Concept Data 2025