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Metadata
ID	DOID:0111585
Name	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. https://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/15363639, https://www.ncbi.nlm.nih.gov/pubmed/9399886
Xrefs	GARD:1123 MESH:C562812 NCI:C133086 OMIM:212138 ORDO:159 SNOMEDCT_US_2023_03_01:238003000 UMLS_CUI:C0342791
Subsets	DO_rare_slim NCIthesaurus
Synonyms	CACT deficiency [EXACT] CACTD [EXACT]
Parent Relationships	is_a lipid metabolism disorder is_a autosomal recessive disease