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Disease Ontology Browser
carnitine-acylcarnitine translocase deficiency (DOID:0111585)
Alliance: disease page
Synonyms: CACT deficiency; CACTD
Alt IDs: OMIM:212138, MESH:C562812, NCI:C133086, ORDO:159, UMLS_CUI:C0342791
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 SLC25A20 on chromosome 3p21.31.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/27/2022
MGI 6.21
The Jackson Laboratory