loading...| Preferred Name |
Carnitine-acylcarnitine translocase deficiency |
| ID |
http://www.orpha.net/ORDO/Orphanet_159 |
| alternative_term |
CACT deficiency |
| definition |
Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159 |
| has_age_of_onset |
Neonatal Infancy |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
UMLS:C0342791 OMIM:212138 ICD-11:5C52.00 ICD-10:E71.3 |
| label |
Carnitine-acylcarnitine translocase deficiency |
| notation |
ORPHA:159 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_309130 |
| prefixIRI |
ORDO:Orphanet_159 |
| prefLabel |
Carnitine-acylcarnitine translocase deficiency |
| present_in |
Worldwide AND has_cases/families_value : 60.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_309130 |
| subClassOf |