OnlineIMD
HADHA-related MTP deficiency
Synonym(s)
Trifunctional protein subunit alpha deficiency
Type
Disease
External link(s)
IEMbase
VMH
Gene
HADHA
/ Hydroxyacyl-CoA Dehydrogenase Trifunctional Protein Subunit Alpha
2p23.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase [multifunctional enzyme]
Multimer
Mitochondrial trifunctional protein
Pathway
Carnitine metabolism and fatty acid oxidation
Parent entry
Mitochondrial trifunctional protein deficiency
Child entries
Long-chain hydroxyacyl-CoA dehydrogenase deficiency