OnlineIMD
Carnitine palmitoyltransferase 2 deficiency
(CPT2 deficiency)
Type
Disease
External link(s)
Orphanet
IEMbase
VMH
Gene
CPT2
/ Carnitine Palmitoyltransferase 2
1p32.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Carnitine palmitoyltransferase II
Pathway
Carnitine metabolism and fatty acid oxidation
Disease group(s)
4.1 Disorders of carnitine metabolism
Child entries
Carnitine palmitoyl transferase 2 deficiency, neonatal form
Carnitine palmitoyl transferase 2 deficiency, severe infantile form
Carnitine palmitoyl transferase 2 deficiency, myopathic form