Term Name:	carnitine-acylcarnitine translocase deficiency
Synonyms:	CACT deficiency, CACTD
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.
Ontology:	Human Disease [DOID:0111585]   ( DOID:0111585 )