loading...| Preferred Name |
Fumaric aciduria |
|
| Synonyms |
Fumarase deficiency |
|
| Definitions |
Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_24 |
|
| alternative_term |
Fumarase deficiency |
|
| definition |
Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=24 |
|
| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
ICD-11:5C53.1 UMLS:C2936826 OMIM:606812 MeSH:C538191 ICD-10:E88.8 MedDRA:10088204 |
|
| label |
Fumaric aciduria |
|
| notation |
ORPHA:24 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_254749 http://www.orpha.net/ORDO/Orphanet_225700 |
|
| prefixIRI |
ORDO:Orphanet_24 |
|
| prefLabel |
Fumaric aciduria |
|
| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 40.0 (Case) |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_254749 http://www.orpha.net/ORDO/Orphanet_225700 |
|
| subClassOf |