OnlineIMD
HADHB-related MTP deficiency
Synonym(s)
Trifunctional protein subunit beta deficiency
Type
Disease
External link(s)
IEMbase
VMH
Gene
HADHB
/ Hydroxyacyl-CoA Dehydrogenase Bifunctional Type
2p23.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Hydroxyacyl-CoA dehydrogenase, mitochondrial
Multimer
Mitochondrial trifunctional protein
Pathway
Carnitine metabolism and fatty acid oxidation
Parent entry
Mitochondrial trifunctional protein deficiency
Child entries
Long-chain ketoacyl-CoA thiolase deficiency