loading...| Preferred Name |
carnitine-acylcarnitine translocase deficiency |
| Synonyms |
CACTD |
| Definitions |
A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111585 |
| database_cross_reference |
UMLS_CUI:C0342791 SNOMEDCT_US_2022_09_01:238003000 OMIM:212138 MESH:C562812 NCI:C133086 ORDO:159 GARD:1123 |
| definition |
A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31. |
| has exact synonym |
CACTD CACT deficiency |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111585 |
| in_subset | |
| label |
carnitine-acylcarnitine translocase deficiency |
| notation |
DOID:0111585 |
| prefLabel |
carnitine-acylcarnitine translocase deficiency |
| subClassOf |