carnitine palmitoyltransferase II deficiency

Term ID

DOID:0060235

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. (2)

References

• MESH:C535589
• NCI:C114766
• OMIM:255110
• OMIM:600649
• OMIM:608836
• ORDO:157
• SNOMEDCT_US_2023_03_01:238002005
• UMLS_CUI:C0342790

Ontology

Human Disease   ( DOID:0060235 )