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Summary Literature (0)
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:
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
Parent(s): autosomal recessive disease (is_a), lipid metabolism disorder (is_a)