loading...| Preferred Name |
Glutaryl-CoA dehydrogenase deficiency |
| ID |
http://www.orpha.net/ORDO/Orphanet_25 |
| alternative_term |
GCDHD Glutaric aciduria type 1 Glutaric acidemia type 1 Glutaryl-coenzyme A dehydrogenase deficiency GA1 |
| definition |
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. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25 |
| has_age_of_onset |
Neonatal Infancy |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
UMLS:C0268595 MeSH:C536833 ICD-11:5C50.E1 ICD-10:E72.3 OMIM:231670 |
| label |
Glutaryl-CoA dehydrogenase deficiency |
| notation |
ORPHA:25 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_25 |
| prefLabel |
Glutaryl-CoA dehydrogenase deficiency |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Specific population AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 0.48 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 4.3 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 2.85 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 333.0 AND has_point_prevalence_range : >1 / 1000 United States AND has_birth_prevalence_average_value : 0.76 AND has_birth_prevalence_range : 1-9 / 1 000 000 Israel AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Czech Republic AND has_birth_prevalence_average_value : 0.56 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
| treeView | |
| subClassOf |