OBO ID: DOID:0111585 |
Term Name: | carnitine-acylcarnitine translocase deficiency | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0111585 ) |
OTHER carnitine-acylcarnitine translocase deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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