DOID:0111585 - carnitine-acylcarnitine translocase deficiency
Disease Ontology 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.
Synonyms: CACT deficiency, CACTD
Xenbase Genes : slc25a20.2, slc25a20
|OMIM:212138 - CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD|
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee