loading...| Preferred Name |
Isovaleric acidemia |
| ID |
http://www.orpha.net/ORDO/Orphanet_33 |
| alternative_term |
Isovaleric acid CoA dehydrogenase deficiency |
| definition |
A rare, autosomal recessive, organic aciduria that is characterized by variable clinical presentation ranging from acute neonatal onset of metabolic decompensation to later onset of chronic, non-specific manifestations including failure to thrive and/or developmental delay. All patients are prone to intermittent, acute metabolic decompensation. During metabolic episodes, urine analysis demonstrates elevated isovaleric acid derivatives. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33 |
| has_age_of_onset |
Adult Adolescent Childhood Neonatal Infancy |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
MeSH:C538167 UMLS:C0268575 OMIM:243500 ICD-10:E71.1 ICD-11:5C50.E0 |
| label |
Isovaleric acidemia |
| notation |
ORPHA:33 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_33 |
| prefLabel |
Isovaleric acidemia |
| present_in |
Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 0.53 AND has_birth_prevalence_range : 1-9 / 1 000 000 Australia AND has_birth_prevalence_average_value : 0.28 AND has_birth_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.63 AND has_birth_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 1.55 AND has_birth_prevalence_range : 1-9 / 100 000 |
| treeView | |
| subClassOf |