Search Ontology:
Human Disease

carnitine-acylcarnitine translocase deficiency

Term ID
DOID:0111585
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. (3)
References
Ontology
Human Disease   ( DOID:0111585 )
Relationships
is a type of
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Genes Involved
Zebrafish Models