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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 SLC25A20 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_2019_09_01:238003000

UMLS_CUI:C0342791

Synonyms

CACT deficiency [EXACT]

CACTD [EXACT]

Parent Relationships

is_a lipid metabolism disorder

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