glutaric acidemia I

Summary
Synonym
  • GA1
  • glutaric academia type 1
  • glutaric aciduria 1
  • glutaric aciduria type I
  • glutaryl-coA dehydrogenase deficiency
  • glutaryl-coenzyme A dehydrogenase deficiency
Definition
An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13.
Super Class
autosomal recessive disease organic acidemia
Disease Ontology
DOID:0111254
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2639 GCDH glutaryl-CoA dehydrogenase
The Human Phenotype Ontology
Displaying entries 61 - 67 of 67 in total
HPO ID HPO Term
HP:0001298 Encephalopathy
HP:0000256 Macrocephaly
HP:0002240 Hepatomegaly
HP:0011463 Childhood onset
HP:0001266 Choreoathetosis
HP:0003623 Neonatal onset
HP:0001508 Failure to thrive
Displaying 1 entry
Gene ID Gene Symbol Description
2639 GCDH glutaryl-CoA dehydrogenase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024