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| Term | carnitine-acylcarnitine translocase deficiency | ID (Ontology) | DOID:0111585 (Human Disease) |
| 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. | ||
| Also Known As | "CACT deficiency" ; "CACTD" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ inherited metabolic disorder | |__lipid metabolism disorder____| carnitine-acylcarnitine translocase deficiency 2 rec. |
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| Is a |
autosomal recessive disease lipid metabolism disorder |
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GARD:1123 MESH:C562812 MIM:212138 NCI:C133086 ORDO:159 SNOMEDCT_US_2023_03_01:238003000 UMLS_CUI:C0342791 |
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