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 the SLC25A20 gene on chromosome 3p21.31.