Version: 8.0.0
Date: Tue Jan 28 2025
carnitine-acylcarnitine translocase deficiency
DOID:0111585
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

carnitine-acylcarnitine translocase deficiency

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.
Synonyms
  • CACT deficiency
  • CACTD
Cross References
Parent Terms
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None
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