OBO ID: DOID:0111585
Term Name: carnitine-acylcarnitine translocase deficiency Search Ontology:
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 SLC25A20 on chromosome 3p21.31. (3)
References:
Ontology: Human Disease   (DOID:0111585)
OTHER carnitine-acylcarnitine translocase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC25A20 Carnitine-acylcarnitine translocase deficiency 212138
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None