Glutaryl-CoA dehydrogenase deficiency
Synonyms: GA1 | GCDHD | Glutaric acidemia type 1 | Glutaric aciduria type 1 | Glutaryl-coenzyme A dehydrogenase deficiency
Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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Glutaryl-CoA dehydrogenase deficiency?
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