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

• GARD:1123
• MESH:C562812
• NCI:C133086
• OMIM:212138
• ORDO:159
• SNOMEDCT_US_2023_03_01:238003000
• UMLS_CUI:C0342791

Ontology

Human Disease   ( DOID:0111585 )