loading...| Preferred Name |
Short chain acyl-CoA dehydrogenase deficiency |
| ID |
http://www.orpha.net/ORDO/Orphanet_26792 |
| alternative_term |
ACADS deficiency SCADD SCAD deficiency |
| definition |
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26792 |
| has_age_of_onset |
Childhood Neonatal Infancy |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
ICD-11:5C52.01 MeSH:C537596 ICD-10:E71.3 OMIM:201470 |
| label |
Short chain acyl-CoA dehydrogenase deficiency |
| notation |
ORPHA:26792 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_26792 |
| prefLabel |
Short chain acyl-CoA dehydrogenase deficiency |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Netherlands AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 |
| treeView | |
| subClassOf |