Term Name: | carnitine palmitoyltransferase II deficiency |
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Synonyms: | CPT-II, infantile carnitine palmitoyltransferase II deficiency, late-onset carnitine palmitoyltransferase II deficiency, lethal neonatal carnitine palmitoyltransferase II deficiency |
Definition: | A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. |
Ontology: | Human Disease [DOID:0060235] ( DOID:0060235 ) |